Details for: ABCA4

Gene ID: 24

Symbol: ABCA4

Ensembl ID: ENSG00000198691

Description: ATP binding cassette subfamily A member 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 20.4585
    Cell Significance Index: 2973.8800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 16.6529
    Cell Significance Index: 233.8900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 13.5740
    Cell Significance Index: 161.8100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 9.1172
    Cell Significance Index: 574.6300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 7.1278
    Cell Significance Index: 437.0000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 5.7673
    Cell Significance Index: -3.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 4.8277
    Cell Significance Index: 154.6300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 4.0430
    Cell Significance Index: -3.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.5697
    Cell Significance Index: 116.4800
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 2.2544
    Cell Significance Index: 12.6400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.9683
    Cell Significance Index: 374.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 1.6166
    Cell Significance Index: 56.8100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1342
    Cell Significance Index: 1024.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.1316
    Cell Significance Index: 718.7000
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 1.0670
    Cell Significance Index: 13.3200
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.9566
    Cell Significance Index: 7.3600
  • Cell Name: chorionic trophoblast cell (CL0011101)
    Fold Change: 0.8801
    Cell Significance Index: 2.7300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7666
    Cell Significance Index: 83.3800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7221
    Cell Significance Index: 117.4400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.6863
    Cell Significance Index: 16.6300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5753
    Cell Significance Index: 34.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5232
    Cell Significance Index: 51.7600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4277
    Cell Significance Index: 29.5800
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.2624
    Cell Significance Index: 3.0500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1872
    Cell Significance Index: 37.1500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1744
    Cell Significance Index: 4.3600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1689
    Cell Significance Index: 2.6800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1461
    Cell Significance Index: 3.0300
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.1169
    Cell Significance Index: 1.0300
  • Cell Name: surface ectodermal cell (CL0000114)
    Fold Change: 0.1064
    Cell Significance Index: 0.8400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.0850
    Cell Significance Index: 1.0300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.0834
    Cell Significance Index: 1.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0816
    Cell Significance Index: 4.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0712
    Cell Significance Index: 134.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0587
    Cell Significance Index: 1.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0507
    Cell Significance Index: 93.5800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0468
    Cell Significance Index: 1.2600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0381
    Cell Significance Index: 7.6500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0379
    Cell Significance Index: 0.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0338
    Cell Significance Index: 0.8700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0298
    Cell Significance Index: 0.2300
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0291
    Cell Significance Index: 0.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0256
    Cell Significance Index: 11.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0202
    Cell Significance Index: 0.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0098
    Cell Significance Index: 15.0200
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.0037
    Cell Significance Index: 0.0400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0035
    Cell Significance Index: 0.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0034
    Cell Significance Index: 2.3500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0017
    Cell Significance Index: 2.3300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0007
    Cell Significance Index: -0.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0008
    Cell Significance Index: -0.3800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0011
    Cell Significance Index: -0.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0017
    Cell Significance Index: -0.6100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0039
    Cell Significance Index: -2.8700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0046
    Cell Significance Index: -3.4300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0047
    Cell Significance Index: -3.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0057
    Cell Significance Index: -3.2000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0071
    Cell Significance Index: -0.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0076
    Cell Significance Index: -2.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0166
    Cell Significance Index: -2.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0177
    Cell Significance Index: -3.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0185
    Cell Significance Index: -2.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0218
    Cell Significance Index: -3.0000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0226
    Cell Significance Index: -0.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0260
    Cell Significance Index: -2.9800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0284
    Cell Significance Index: -3.3100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0299
    Cell Significance Index: -3.8600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0302
    Cell Significance Index: -0.6500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0321
    Cell Significance Index: -3.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0389
    Cell Significance Index: -1.0600
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0398
    Cell Significance Index: -0.4500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0418
    Cell Significance Index: -2.8100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0422
    Cell Significance Index: -4.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0436
    Cell Significance Index: -2.2900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0455
    Cell Significance Index: -0.9900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0481
    Cell Significance Index: -2.5000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0485
    Cell Significance Index: -3.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0501
    Cell Significance Index: -3.0800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0516
    Cell Significance Index: -3.6500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0526
    Cell Significance Index: -1.4700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0544
    Cell Significance Index: -4.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0549
    Cell Significance Index: -4.1000
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.0567
    Cell Significance Index: -0.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0570
    Cell Significance Index: -2.9700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0589
    Cell Significance Index: -2.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0597
    Cell Significance Index: -2.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0637
    Cell Significance Index: -1.7000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0665
    Cell Significance Index: -3.1000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0694
    Cell Significance Index: -2.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0700
    Cell Significance Index: -2.6500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0714
    Cell Significance Index: -1.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0720
    Cell Significance Index: -3.3900
  • Cell Name: S cone cell (CL0003050)
    Fold Change: -0.0755
    Cell Significance Index: -0.8800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0786
    Cell Significance Index: -1.6400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0788
    Cell Significance Index: -2.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0791
    Cell Significance Index: -2.5200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0795
    Cell Significance Index: -2.9200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0811
    Cell Significance Index: -2.5700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0816
    Cell Significance Index: -1.2300
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0889
    Cell Significance Index: -1.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ABCA4 is a member of the ATP-binding cassette (ABC) transporter superfamily, which is characterized by its ability to transport a wide range of substrates across cellular membranes using ATP hydrolysis. ABCA4 is specifically expressed in photoreceptor cells, where it plays a critical role in the visual cycle. This gene is also highly expressed in other cell types, including megakaryocytes, hematopoietic stem cells, and non-pigmented and pigmented ciliary epithelial cells. **Pathways and Functions:** ABCA4 functions as a flippase, responsible for the transport of retinoids, including all-trans retinal and 11-cis retinal, across the outer segment disc membrane of photoreceptor cells. This process is essential for the regeneration of 11-cis retinal, which is necessary for the proper functioning of the visual cycle. ABCA4 also participates in the transport of other lipids, including phosphatidylethanolamine and N-retinylidene-phosphatidylethanolamine, across cellular membranes. The ABCA4 protein is composed of 12 transmembrane domains, which allow it to bind and transport its substrates. The protein's ability to hydrolyze ATP is necessary for its function as a flippase. ABCA4 also interacts with other proteins, including rhodopsin and arrestin, to regulate the visual cycle. **Clinical Significance:** Mutations in the ABCA4 gene have been identified as the primary cause of several retinal disorders, including: 1. **Stargardt disease**: A progressive form of juvenile macular degeneration characterized by the accumulation of lipofuscin in the retina. 2. **Cone-rod dystrophy**: A group of inherited eye disorders that affect the cone and rod photoreceptor cells, leading to progressive vision loss. 3. **Retinitis pigmentosa**: A group of inherited eye disorders that affect the rod photoreceptor cells, leading to progressive vision loss. Understanding the function and pathways of ABCA4 is essential for the development of novel therapeutic strategies for these retinal disorders. Potential therapeutic approaches include: 1. **Gene therapy**: The use of viral vectors to deliver the ABCA4 gene to photoreceptor cells, with the goal of restoring normal function to the visual cycle. 2. **Small molecule inhibitors**: The use of small molecules to inhibit the activity of ABCA4, potentially reducing the accumulation of lipofuscin in the retina. 3. **Stem cell therapy**: The use of stem cells to replace damaged photoreceptor cells, potentially restoring normal vision. In conclusion, ABCA4 is a critical gene involved in the maintenance of photoreceptor cells in the retina, and its dysfunction has been linked to several retinal disorders. Further research into the function and pathways of ABCA4 is essential for the development of novel therapeutic strategies for these disorders.

Genular Protein ID: 931430585

Symbol: ABCA4_HUMAN

Name: ATP-binding cassette sub-family A member 4

UniProtKB Accession Codes:

P78363 O15112 O60438 O60915 Q0QD48 Q4LE31

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 22 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 57 EMDB 9 Ensembl 1 ExpressionAtlas 1 GO 31 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 10 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 6 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9054934

Title: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PubMed ID: 9054934

DOI: 10.1038/ng0397-236

PubMed ID: 9202155

Title: The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR).

PubMed ID: 9202155

DOI: 10.1016/s0014-5793(97)00517-6

PubMed ID: 9503029

Title: Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

PubMed ID: 9503029

DOI: 10.1006/geno.1997.5164

PubMed ID: 9490294

Title: Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.

PubMed ID: 9490294

DOI: 10.1007/s004390050649

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

PubMed ID: 10075733

Title: Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.

PubMed ID: 10075733

DOI: 10.1074/jbc.274.12.8269

PubMed ID: 9466990

Title: Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

PubMed ID: 9466990

DOI: 10.1093/hmg/7.3.355

PubMed ID: 11320094

Title: Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites.

PubMed ID: 11320094

DOI: 10.1074/jbc.m101902200

PubMed ID: 20404325

Title: Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal.

PubMed ID: 20404325

DOI: 10.1074/jbc.m110.112896

PubMed ID: 23144455

Title: Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.

PubMed ID: 23144455

DOI: 10.1074/jbc.m112.409623

PubMed ID: 22735453

Title: ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer.

PubMed ID: 22735453

DOI: 10.1038/ncomms1927

PubMed ID: 24097981

Title: Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PubMed ID: 24097981

DOI: 10.1074/jbc.m113.508812

PubMed ID: 31481235

Title: Functional significance of the conserved C-Terminal VFVNFA motif in the retina-specific ABC transporter, ABCA4, and its role in inherited visual disease.

PubMed ID: 31481235

DOI: 10.1016/j.bbrc.2019.08.121

PubMed ID: 33605212

Title: Molecular structures of the eukaryotic retinal importer ABCA4.

PubMed ID: 33605212

DOI: 10.7554/elife.63524

PubMed ID: 9295268

Title: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PubMed ID: 9295268

DOI: 10.1126/science.277.5333.1805

PubMed ID: 9781034

Title: Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PubMed ID: 9781034

DOI: 10.1038/sj.ejhg.5200221

PubMed ID: 9973280

Title: Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PubMed ID: 9973280

DOI: 10.1086/302251

PubMed ID: 10090887

Title: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease.

PubMed ID: 10090887

DOI: 10.1086/302323

PubMed ID: 10612508

Title: A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

PubMed ID: 10612508

DOI: 10.1016/s0002-9394(99)00236-6

PubMed ID: 10206579

Title: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

PubMed ID: 10206579

DOI: 10.1001/archopht.117.4.504

PubMed ID: 10880298

Title: Further evidence for an association of ABCR alleles with age-related macular degeneration.

PubMed ID: 10880298

DOI: 10.1086/303018

PubMed ID: 10958763

Title: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PubMed ID: 10958763

DOI: 10.1086/303090

PubMed ID: 10958761

Title: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

PubMed ID: 10958761

DOI: 10.1086/303079

PubMed ID: 10746567

Title: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

PubMed ID: 10746567

DOI: 10.1007/s004390051034

PubMed ID: 10634594

Title: An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

PubMed ID: 10634594

PubMed ID: 10711710

Title: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PubMed ID: 10711710

PubMed ID: 11017087

Title: Biochemical defects in ABCR protein variants associated with human retinopathies.

PubMed ID: 11017087

DOI: 10.1038/79994

PubMed ID: 11594993

Title: Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PubMed ID: 11594993

DOI: 10.1034/j.1600-0420.2001.790520.x

PubMed ID: 11384574

Title: Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?

PubMed ID: 11384574

DOI: 10.1016/s0002-9394(01)00838-8

PubMed ID: 11346402

Title: Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.

PubMed ID: 11346402

DOI: 10.1001/archopht.119.5.745

PubMed ID: 11379881

Title: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

PubMed ID: 11379881

DOI: 10.1007/s004390100493

PubMed ID: 11385708

Title: Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

PubMed ID: 11385708

DOI: 10.1002/humu.1133

PubMed ID: 11328725

Title: An analysis of allelic variation in the ABCA4 gene.

PubMed ID: 11328725

PubMed ID: 11527935

Title: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PubMed ID: 11527935

PubMed ID: 12111378

Title: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.

PubMed ID: 12111378

DOI: 10.1007/s100380200041

PubMed ID: 15192030

Title: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

PubMed ID: 15192030

DOI: 10.1373/clinchem.2004.033241

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19028736

Title: Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

PubMed ID: 19028736

DOI: 10.1136/bjo.2008.145193

PubMed ID: 18977788

Title: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PubMed ID: 18977788

DOI: 10.1136/bjo.2008.148155

PubMed ID: 19265867

Title: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.

PubMed ID: 19265867

DOI: 10.1038/eye.2009.35

PubMed ID: 20335603

Title: ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

PubMed ID: 20335603

DOI: 10.1167/iovs.09-4655

PubMed ID: 23143460

Title: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

PubMed ID: 23143460

DOI: 10.1001/archophthalmol.2012.1697

PubMed ID: 23419329

Title: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

PubMed ID: 23419329

DOI: 10.1016/j.exer.2013.02.006

PubMed ID: 24444108

Title: Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PubMed ID: 24444108

DOI: 10.1186/1471-2350-15-11

PubMed ID: 24457364

Title: Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

PubMed ID: 24457364

DOI: 10.1136/bjophthalmol-2013-304270

PubMed ID: 25346251

Title: An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

PubMed ID: 25346251

DOI: 10.1002/humu.22716

PubMed ID: 26780318

Title: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.

PubMed ID: 26780318

DOI: 10.1167/iovs.15-18190

PubMed ID: 29847635

Title: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

PubMed ID: 29847635

DOI: 10.1167/iovs.17-23364

PubMed ID: 30120214

Title: Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

PubMed ID: 30120214

DOI: 10.1136/jmedgenet-2018-105364

PubMed ID: 33375396

Title: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

PubMed ID: 33375396

DOI: 10.3390/ijms22010185

Sequence Information:

  • Length: 2273
  • Mass: 255944
  • Checksum: 6E7012D3041CD043
  • Sequence:
    • MGFVRQIQLL LWKNWTLRKR QKIRFVVELV WPLSLFLVLI WLRNANPLYS HHECHFPNKA 
MPSAGMLPWL QGIFCNVNNP CFQSPTPGES PGIVSNYNNS ILARVYRDFQ ELLMNAPESQ 
HLGRIWTELH ILSQFMDTLR THPERIAGRG IRIRDILKDE ETLTLFLIKN IGLSDSVVYL 
LINSQVRPEQ FAHGVPDLAL KDIACSEALL ERFIIFSQRR GAKTVRYALC SLSQGTLQWI 
EDTLYANVDF FKLFRVLPTL LDSRSQGINL RSWGGILSDM SPRIQEFIHR PSMQDLLWVT 
RPLMQNGGPE TFTKLMGILS DLLCGYPEGG GSRVLSFNWY EDNNYKAFLG IDSTRKDPIY 
SYDRRTTSFC NALIQSLESN PLTKIAWRAA KPLLMGKILY TPDSPAARRI LKNANSTFEE 
LEHVRKLVKA WEEVGPQIWY FFDNSTQMNM IRDTLGNPTV KDFLNRQLGE EGITAEAILN 
FLYKGPRESQ ADDMANFDWR DIFNITDRTL RLVNQYLECL VLDKFESYND ETQLTQRALS 
LLEENMFWAG VVFPDMYPWT SSLPPHVKYK IRMDIDVVEK TNKIKDRYWD SGPRADPVED 
FRYIWGGFAY LQDMVEQGIT RSQVQAEAPV GIYLQQMPYP CFVDDSFMII LNRCFPIFMV 
LAWIYSVSMT VKSIVLEKEL RLKETLKNQG VSNAVIWCTW FLDSFSIMSM SIFLLTIFIM 
HGRILHYSDP FILFLFLLAF STATIMLCFL LSTFFSKASL AAACSGVIYF TLYLPHILCF 
AWQDRMTAEL KKAVSLLSPV AFGFGTEYLV RFEEQGLGLQ WSNIGNSPTE GDEFSFLLSM 
QMMLLDAAVY GLLAWYLDQV FPGDYGTPLP WYFLLQESYW LGGEGCSTRE ERALEKTEPL 
TEETEDPEHP EGIHDSFFER EHPGWVPGVC VKNLVKIFEP CGRPAVDRLN ITFYENQITA 
FLGHNGAGKT TTLSILTGLL PPTSGTVLVG GRDIETSLDA VRQSLGMCPQ HNILFHHLTV 
AEHMLFYAQL KGKSQEEAQL EMEAMLEDTG LHHKRNEEAQ DLSGGMQRKL SVAIAFVGDA 
KVVILDEPTS GVDPYSRRSI WDLLLKYRSG RTIIMSTHHM DEADLLGDRI AIIAQGRLYC 
SGTPLFLKNC FGTGLYLTLV RKMKNIQSQR KGSEGTCSCS SKGFSTTCPA HVDDLTPEQV 
LDGDVNELMD VVLHHVPEAK LVECIGQELI FLLPNKNFKH RAYASLFREL EETLADLGLS 
SFGISDTPLE EIFLKVTEDS DSGPLFAGGA QQKRENVNPR HPCLGPREKA GQTPQDSNVC 
SPGAPAAHPE GQPPPEPECP GPQLNTGTQL VLQHVQALLV KRFQHTIRSH KDFLAQIVLP 
ATFVFLALML SIVIPPFGEY PALTLHPWIY GQQYTFFSMD EPGSEQFTVL ADVLLNKPGF 
GNRCLKEGWL PEYPCGNSTP WKTPSVSPNI TQLFQKQKWT QVNPSPSCRC STREKLTMLP 
ECPEGAGGLP PPQRTQRSTE ILQDLTDRNI SDFLVKTYPA LIRSSLKSKF WVNEQRYGGI 
SIGGKLPVVP ITGEALVGFL SDLGRIMNVS GGPITREASK EIPDFLKHLE TEDNIKVWFN 
NKGWHALVSF LNVAHNAILR ASLPKDRSPE EYGITVISQP LNLTKEQLSE ITVLTTSVDA 
VVAICVIFSM SFVPASFVLY LIQERVNKSK HLQFISGVSP TTYWVTNFLW DIMNYSVSAG 
LVVGIFIGFQ KKAYTSPENL PALVALLLLY GWAVIPMMYP ASFLFDVPST AYVALSCANL 
FIGINSSAIT FILELFENNR TLLRFNAVLR KLLIVFPHFC LGRGLIDLAL SQAVTDVYAR 
FGEEHSANPF HWDLIGKNLF AMVVEGVVYF LLTLLVQRHF FLSQWIAEPT KEPIVDEDDD 
VAEERQRIIT GGNKTDILRL HELTKIYPGT SSPAVDRLCV GVRPGECFGL LGVNGAGKTT 
TFKMLTGDTT VTSGDATVAG KSILTNISEV HQNMGYCPQF DAIDELLTGR EHLYLYARLR 
GVPAEEIEKV ANWSIKSLGL TVYADCLAGT YSGGNKRKLS TAIALIGCPP LVLLDEPTTG 
MDPQARRMLW NVIVSIIREG RAVVLTSHSM EECEALCTRL AIMVKGAFRC MGTIQHLKSK 
FGDGYIVTMK IKSPKDDLLP DLNPVEQFFQ GNFPGSVQRE RHYNMLQFQV SSSSLARIFQ 
LLLSHKDSLL IEEYSVTQTT LDQVFVNFAK QQTESHDLPL HPRAAGASRQ AQD

Genular Protein ID: 3351597407

Symbol: Q6AI28_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6AI28

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 1065
  • Mass: 118112
  • Checksum: F6386682A8164E68
  • Sequence:
    • MDVVLHHVPE AKLVECIGQE LIFLLPNKNF KHRAYASLFR ELEETLADLG LSSFGISDTP 
LEEIFLKVTE DSDSGPLFAG GAQQKRENVN PRHPCLGPRE KAGQTPQDSN VCSPGAPAAH 
PEGQPPPEPE CPGPQLNTGT QLVLQHVQAL LVKRFQHTIR SHKDFLAQIV LPATFVFLAL 
MLSIVIPPFG EYPALTLHPW IYGQQYTFFS MDEPGSEQFT VLADVLLNKP GFGNRCLKEG 
WLPEYPCGNS TPWKTPSVSP NITQLFQKQK WTQVNPSPSC RCSTREKLTM LPECPEGAGG 
LPPPQRTQRS TEILQDLTDR NISDFLVKTY PALIRSSLKS KFWVNEQRYG GISIGGKLPV 
VPITGEALVG FLSDLGRIMN VSGGPITREA SKEIPDFLKH LETEDNIKVW FNNKGWHALV 
SFLNVAHNAI LRASLPKDRS PEEYGITVIS QPLNLTKEQL SEITVLTTSV DAVVAICVIF 
SMSFVPASFV LYLIQERVNK SKHLQFISGV SPTTYWVTNF LWDIMNYSVS AGLVVGIFIG 
FQKKAYTSPE NLPALVALLL LYGWAVIPMM YPASFLFDVP STAYVALSCA NLFIGINSSA 
ITFILELFEN NRTLLRFNAV LRKLLIVFPH FCLGRGLIDL ALSQAVTDVY ARFGEEHSAN 
PFHWDLIGKN LFAMVVEGVV YFLLTLLVQR HFFLSQWIAE PTKEPIVDED DDVAEERQRI 
ITGGNKTDIL RLHELTKIYP GTSSPAVDRL CVGVRPGECF GLLGVSGAGK TTTFKMLTGD 
TTVTSGDATV AGKSILTNIS EVHQNMGYCP QFDAIDELLT GREHLYLYAR LRGVPAEEIE 
KVANWSIKSL GLTVYADCLA GTYSGGNKRK LSTAIALIGC PPLVLLDEPT TGMDPQARRM 
LWNVIVSIIR EGRAVVLTSH SMEECEALCT RLAIMVKGAF RCMGTIQHLK SKFGDGYIVT 
MKIKSPKDDL LPDLNPVEQF FQGNFPGSVQ RERHYNMLQF QVSSSSLARI FQLLLSHKDS 
LLIEEYSVTQ TTLDQVFVNF AKQQTESHDL PLHPRAAGAS RQAQD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.