Details for: ABCD1

Gene ID: 215

Symbol: ABCD1

Ensembl ID: ENSG00000101986

Description: ATP binding cassette subfamily D member 1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 54.3250
    Cell Significance Index: -8.4500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 31.8557
    Cell Significance Index: -8.0800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 17.7843
    Cell Significance Index: -7.2300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 15.9802
    Cell Significance Index: -8.2200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 7.5832
    Cell Significance Index: -7.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.8453
    Cell Significance Index: -8.4400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.1566
    Cell Significance Index: -8.5100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8041
    Cell Significance Index: 79.5500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6331
    Cell Significance Index: 18.2400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6252
    Cell Significance Index: 8.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5254
    Cell Significance Index: 31.5400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5069
    Cell Significance Index: 55.1300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4384
    Cell Significance Index: 71.3100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3049
    Cell Significance Index: 21.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2631
    Cell Significance Index: 5.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2589
    Cell Significance Index: 13.4500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2568
    Cell Significance Index: 4.1200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2527
    Cell Significance Index: 4.6700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2113
    Cell Significance Index: 24.6300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1924
    Cell Significance Index: 38.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1860
    Cell Significance Index: 8.4300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1609
    Cell Significance Index: 8.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1335
    Cell Significance Index: 24.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1161
    Cell Significance Index: 4.0800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0714
    Cell Significance Index: 1.5200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0607
    Cell Significance Index: 11.5600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0604
    Cell Significance Index: 1.5100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0556
    Cell Significance Index: 6.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0459
    Cell Significance Index: 5.8900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0446
    Cell Significance Index: 2.0800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0356
    Cell Significance Index: 0.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0207
    Cell Significance Index: 11.3200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0137
    Cell Significance Index: 6.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0060
    Cell Significance Index: 5.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0052
    Cell Significance Index: 0.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0048
    Cell Significance Index: 9.0500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0018
    Cell Significance Index: 0.0500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0004
    Cell Significance Index: 0.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0026
    Cell Significance Index: -0.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0028
    Cell Significance Index: -0.5600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0033
    Cell Significance Index: -6.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0049
    Cell Significance Index: -7.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0060
    Cell Significance Index: -3.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0083
    Cell Significance Index: -6.1100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0086
    Cell Significance Index: -11.6700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0095
    Cell Significance Index: -3.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0101
    Cell Significance Index: -7.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0113
    Cell Significance Index: -1.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0121
    Cell Significance Index: -2.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0122
    Cell Significance Index: -9.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0123
    Cell Significance Index: -5.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0140
    Cell Significance Index: -0.9000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0152
    Cell Significance Index: -8.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0166
    Cell Significance Index: -1.9000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0218
    Cell Significance Index: -13.5900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0295
    Cell Significance Index: -8.5000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0337
    Cell Significance Index: -2.5900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0359
    Cell Significance Index: -0.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0399
    Cell Significance Index: -5.1500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0421
    Cell Significance Index: -4.9600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0422
    Cell Significance Index: -1.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0424
    Cell Significance Index: -6.1600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0453
    Cell Significance Index: -0.9400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0477
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0510
    Cell Significance Index: -10.7400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0523
    Cell Significance Index: -3.7000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0620
    Cell Significance Index: -1.6300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0774
    Cell Significance Index: -8.0600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0787
    Cell Significance Index: -3.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0833
    Cell Significance Index: -2.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0855
    Cell Significance Index: -6.3700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0867
    Cell Significance Index: -2.3200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0884
    Cell Significance Index: -4.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0917
    Cell Significance Index: -5.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0935
    Cell Significance Index: -5.8900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0943
    Cell Significance Index: -1.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0956
    Cell Significance Index: -7.5700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0994
    Cell Significance Index: -6.1100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1089
    Cell Significance Index: -2.2800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1127
    Cell Significance Index: -2.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1130
    Cell Significance Index: -3.6200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1249
    Cell Significance Index: -8.4000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1355
    Cell Significance Index: -3.9800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1355
    Cell Significance Index: -2.0300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1384
    Cell Significance Index: -6.1200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1428
    Cell Significance Index: -2.3900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1447
    Cell Significance Index: -5.0300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1459
    Cell Significance Index: -1.5100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1577
    Cell Significance Index: -7.9700
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1585
    Cell Significance Index: -0.6900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1617
    Cell Significance Index: -2.3200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1667
    Cell Significance Index: -4.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1687
    Cell Significance Index: -6.3900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1798
    Cell Significance Index: -9.4400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1834
    Cell Significance Index: -3.5800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2031
    Cell Significance Index: -8.8300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2188
    Cell Significance Index: -2.0200
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.2274
    Cell Significance Index: -2.1600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2351
    Cell Significance Index: -6.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2389
    Cell Significance Index: -8.3700

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** 1. **Transmembrane transporter**: ABCD1 is a member of the ATP-binding cassette (ABC) transporter family, which is characterized by its ability to transport molecules across cell membranes using energy from ATP hydrolysis. 2. **Peroxisomal lipid efflux**: ABCD1 is specifically localized to peroxisomes, where it regulates the efflux of VLCFAs, which are toxic to cells when accumulated in excess. 3. **Regulation of lipid homeostasis**: By controlling the levels of VLCFAs, ABCD1 plays a critical role in maintaining lipid homeostasis in cells, which is essential for various cellular processes, including energy production, membrane synthesis, and signaling. 4. **Association with neurodegenerative disorders**: Mutations in the ABCD1 gene have been linked to adrenoleukodystrophy (ALD), a severe genetic disorder characterized by progressive damage to the nervous system and adrenal glands. **Pathways and Functions** 1. **Abc-family proteins mediated transport**: ABCD1 is a member of the ABC transporter family, which is responsible for transporting molecules across cell membranes using energy from ATP hydrolysis. 2. **Fatty-acyl-coa transport**: ABCD1 regulates the efflux of VLCFAs from peroxisomes to the cytosol, where they are converted into fatty acids for use in energy production or other cellular processes. 3. **Peroxisomal lipid metabolism**: ABCD1 plays a critical role in regulating the levels of VLCFAs in peroxisomes, which is essential for maintaining lipid homeostasis in cells. 4. **Regulation of cellular response to oxidative stress**: ABCD1 has been shown to regulate the levels of reactive oxygen species (ROS) in cells, which is essential for maintaining cellular homeostasis and preventing oxidative damage. **Clinical Significance** 1. **Adrenoleukodystrophy (ALD)**: Mutations in the ABCD1 gene have been associated with ALD, a rare and severe genetic disorder characterized by progressive damage to the nervous system and adrenal glands. 2. **Neurodegenerative disorders**: ABCD1 has been implicated in the pathogenesis of various neurodegenerative disorders, including multiple sclerosis and Parkinson's disease. 3. **Lipid disorders**: ABCD1 plays a critical role in regulating lipid homeostasis in cells, and mutations in the gene can lead to lipid disorders, including hypercholesterolemia and hypertriglyceridemia. In conclusion, the ABCD1 gene plays a critical role in maintaining lipid homeostasis and preventing neurodegenerative disorders. Further research is needed to fully understand the mechanisms by which ABCD1 regulates lipid metabolism and to develop effective therapeutic strategies for the treatment of ABCD1-related disorders.

Genular Protein ID: 3541784732

Symbol: ABCD1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8441467

Title: Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

PubMed ID: 8441467

DOI: 10.1038/361726a0

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10551832

Title: Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

PubMed ID: 10551832

DOI: 10.1074/jbc.274.46.32738

PubMed ID: 11248239

Title: Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

PubMed ID: 11248239

DOI: 10.1016/s0014-5793(01)02235-9

PubMed ID: 10777694

Title: Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.

PubMed ID: 10777694

DOI: 10.1006/bbrc.2000.2572

PubMed ID: 10704444

Title: PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.

PubMed ID: 10704444

DOI: 10.1083/jcb.148.5.931

PubMed ID: 16213491

Title: X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism.

PubMed ID: 16213491

DOI: 10.1016/j.febslet.2005.09.014

PubMed ID: 15781447

Title: Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.

PubMed ID: 15781447

DOI: 10.1074/jbc.m501750200

PubMed ID: 15682271

Title: Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.

PubMed ID: 15682271

DOI: 10.1007/s10038-004-0226-4

PubMed ID: 16946495

Title: ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells.

PubMed ID: 16946495

DOI: 10.1248/bpb.29.1836

PubMed ID: 17609205

Title: Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).

PubMed ID: 17609205

DOI: 10.1074/jbc.m702122200

PubMed ID: 18757502

Title: The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.

PubMed ID: 18757502

DOI: 10.1096/fj.08-110866

PubMed ID: 21145416

Title: Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid beta-oxidation.

PubMed ID: 21145416

DOI: 10.1016/j.bbalip.2010.11.010

PubMed ID: 23671276

Title: Impaired very long-chain acyl-CoA beta-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.

PubMed ID: 23671276

DOI: 10.1074/jbc.m112.445445

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29397936

Title: Characterization of human ATP-binding cassette protein subfamily D reconstituted into proteoliposomes.

PubMed ID: 29397936

DOI: 10.1016/j.bbrc.2018.01.153

PubMed ID: 33500543

Title: Acyl-CoA thioesterase activity of peroxisomal ABC protein ABCD1 is required for the transport of very long-chain acyl-CoA into peroxisomes.

PubMed ID: 33500543

DOI: 10.1038/s41598-021-81949-3

PubMed ID: 7904210

Title: Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

PubMed ID: 7904210

DOI: 10.1093/hmg/2.11.1949

PubMed ID: 7849723

Title: Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

PubMed ID: 7849723

DOI: 10.1093/hmg/3.10.1903

PubMed ID: 8040304

Title: Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

PubMed ID: 8040304

DOI: 10.1172/jci117363

PubMed ID: 7825602

Title: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

PubMed ID: 7825602

PubMed ID: 7717396

Title: Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

PubMed ID: 7717396

PubMed ID: 7668254

Title: Altered expression of ALDP in X-linked adrenoleukodystrophy.

PubMed ID: 7668254

PubMed ID: 7860075

Title: De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.

PubMed ID: 7860075

DOI: 10.1007/bf00209412

PubMed ID: 7581394

Title: Mutational analysis of patients with X-linked adrenoleukodystrophy.

PubMed ID: 7581394

DOI: 10.1002/humu.1380060203

PubMed ID: 7561948

Title: Molecular analysis of X-linked adrenoleukodystrophy patients.

PubMed ID: 7561948

DOI: 10.1016/0022-510x(95)00047-6

PubMed ID: 8651290

Title: Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

PubMed ID: 8651290

PubMed ID: 8566952

Title: Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

PubMed ID: 8566952

DOI: 10.1007/bf02265264

PubMed ID: 9452087

Title: First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

PubMed ID: 9452087

DOI: 10.1002/humu.1380110166

PubMed ID: 9584268

Title: A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.

PubMed ID: 9584268

DOI: 10.1023/a:1005399810735

PubMed ID: 9553942

Title: Clinical and genetic aspects of X-linked adrenoleukodystrophy.

PubMed ID: 9553942

DOI: 10.1055/s-2007-973526

PubMed ID: 10190819

Title: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

PubMed ID: 10190819

DOI: 10.1001/archneur.56.3.295

PubMed ID: 10480364

Title: X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.

PubMed ID: 10480364

DOI: 10.1007/s004399900090

PubMed ID: 10369742

Title: Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

PubMed ID: 10369742

DOI: 10.1006/mcpr.1999.0232

PubMed ID: 10227685

Title: X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

PubMed ID: 10227685

DOI: 10.1023/a:1022535930009

PubMed ID: 10737980

Title: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

PubMed ID: 10737980

DOI: 10.1002/(sici)1098-1004(200004)15:4<348::aid-humu7>3.0.co;2-n

PubMed ID: 10980539

Title: Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

PubMed ID: 10980539

DOI: 10.1002/1098-1004(200009)16:3<271::aid-humu15>3.0.co;2-d

PubMed ID: 11810273

Title: Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

PubMed ID: 11810273

DOI: 10.1007/s00439-001-0632-z

PubMed ID: 11438993

Title: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange.

PubMed ID: 11438993

DOI: 10.1002/humu.1149

PubMed ID: 11748843

Title: ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

PubMed ID: 11748843

DOI: 10.1002/humu.1227

PubMed ID: 11992258

Title: Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

PubMed ID: 11992258

DOI: 10.1086/340849

PubMed ID: 15643618

Title: Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

PubMed ID: 15643618

DOI: 10.1002/humu.9303

PubMed ID: 34337821

Title:

PubMed ID: 34337821

DOI: 10.1002/humu.24093

PubMed ID: 21889498

Title: Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

PubMed ID: 21889498

DOI: 10.1016/j.cca.2011.08.026

PubMed ID: 21700483

Title: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

PubMed ID: 21700483

DOI: 10.1016/j.ymgme.2011.05.016

PubMed ID: 20661612

Title: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

PubMed ID: 20661612

DOI: 10.1007/s10048-010-0253-6

PubMed ID: 21966424

Title: Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

PubMed ID: 21966424

DOI: 10.1371/journal.pone.0025094

PubMed ID: 23651979

Title: Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

PubMed ID: 23651979

DOI: 10.1159/000346680

PubMed ID: 26686776

Title: Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

PubMed ID: 26686776

DOI: 10.1016/j.cca.2015.12.014

PubMed ID: 28456143

Title: A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.

PubMed ID: 28456143

Sequence Information:

  • Length: 745
  • Mass: 82937
  • Checksum: 82F90905F71FFDC8
  • Sequence:
  • MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV 
    AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR 
    CIVRKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY 
    YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT 
    AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE 
    VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES 
    DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH 
    EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP 
    IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF 
    YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD 
    WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR 
    PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL 
    GEAVAPAHVP APSPQGPGGL QGAST

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.