Details for: SLC22A5

Gene ID: 6584

Symbol: SLC22A5

Ensembl ID: ENSG00000197375

Description: solute carrier family 22 member 5

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: 85.9557
    Cell Significance Index: -13.3700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 54.5254
    Cell Significance Index: -13.8300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 30.1287
    Cell Significance Index: -12.2400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 30.0346
    Cell Significance Index: -14.1800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.8202
    Cell Significance Index: -12.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.4603
    Cell Significance Index: -14.1300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.2410
    Cell Significance Index: -14.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6036
    Cell Significance Index: -14.2200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.5032
    Cell Significance Index: -10.7600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 3.1353
    Cell Significance Index: 76.5000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.2937
    Cell Significance Index: -5.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2375
    Cell Significance Index: 122.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1879
    Cell Significance Index: 91.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.0372
    Cell Significance Index: 29.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.9747
    Cell Significance Index: 44.1800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.9572
    Cell Significance Index: 8.8200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.9115
    Cell Significance Index: 15.0200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8971
    Cell Significance Index: 12.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8885
    Cell Significance Index: 19.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8112
    Cell Significance Index: 88.2400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7821
    Cell Significance Index: 127.2100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.7621
    Cell Significance Index: 16.2900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7591
    Cell Significance Index: 20.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7017
    Cell Significance Index: 36.4500
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.6985
    Cell Significance Index: 11.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5099
    Cell Significance Index: 102.2900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4917
    Cell Significance Index: 88.6500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4708
    Cell Significance Index: 32.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.4329
    Cell Significance Index: 62.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4191
    Cell Significance Index: 48.8400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4096
    Cell Significance Index: 50.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3727
    Cell Significance Index: 133.6800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3617
    Cell Significance Index: 7.9200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3551
    Cell Significance Index: 70.4700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3464
    Cell Significance Index: 9.4300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3392
    Cell Significance Index: 9.4800
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.2527
    Cell Significance Index: 1.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2092
    Cell Significance Index: 39.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1815
    Cell Significance Index: 13.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1555
    Cell Significance Index: 7.2500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1553
    Cell Significance Index: 1.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1463
    Cell Significance Index: 79.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1442
    Cell Significance Index: 99.7000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1428
    Cell Significance Index: 3.5700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1246
    Cell Significance Index: 4.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1221
    Cell Significance Index: 5.4000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1150
    Cell Significance Index: 4.0400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1078
    Cell Significance Index: 2.3000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1040
    Cell Significance Index: 1.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0985
    Cell Significance Index: 13.5200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0673
    Cell Significance Index: 29.7700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0527
    Cell Significance Index: 0.7900
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.0513
    Cell Significance Index: 0.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0474
    Cell Significance Index: 6.0800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0379
    Cell Significance Index: 0.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0371
    Cell Significance Index: 2.3400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.0290
    Cell Significance Index: 0.3000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0268
    Cell Significance Index: 1.6500
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.0259
    Cell Significance Index: 0.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0256
    Cell Significance Index: 16.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0237
    Cell Significance Index: 43.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0230
    Cell Significance Index: 20.8000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0186
    Cell Significance Index: 28.5700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0167
    Cell Significance Index: 31.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0155
    Cell Significance Index: 2.6500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0153
    Cell Significance Index: 1.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0030
    Cell Significance Index: 1.3700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0023
    Cell Significance Index: 0.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0007
    Cell Significance Index: 0.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0044
    Cell Significance Index: -3.2200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0056
    Cell Significance Index: -0.0800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0091
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0123
    Cell Significance Index: -9.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0128
    Cell Significance Index: -1.3100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0133
    Cell Significance Index: -10.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0226
    Cell Significance Index: -12.7500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0246
    Cell Significance Index: -15.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0377
    Cell Significance Index: -10.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0411
    Cell Significance Index: -1.3200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0478
    Cell Significance Index: -0.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0590
    Cell Significance Index: -6.7700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0669
    Cell Significance Index: -7.8900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0689
    Cell Significance Index: -14.5200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0807
    Cell Significance Index: -0.8400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0870
    Cell Significance Index: -2.0100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1037
    Cell Significance Index: -2.6700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1098
    Cell Significance Index: -5.7200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1108
    Cell Significance Index: -5.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1197
    Cell Significance Index: -12.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1381
    Cell Significance Index: -7.7500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.1426
    Cell Significance Index: -1.0900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1474
    Cell Significance Index: -1.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1562
    Cell Significance Index: -12.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1584
    Cell Significance Index: -9.7100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1816
    Cell Significance Index: -3.1400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1829
    Cell Significance Index: -4.9000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1960
    Cell Significance Index: -12.6500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2099
    Cell Significance Index: -3.5300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2286
    Cell Significance Index: -7.2800

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. **Function:** SLC22A5 is a sodium-dependent cotransporter responsible for the transport of carnitine across cell membranes. It is crucial for the uptake of carnitine in the intestine and its subsequent transport to the liver for conversion to acyl-carnitine, which is then transported to tissues for fatty acid oxidation. 2. **Expression:** This gene is highly expressed in skeletal muscle, kidney, cardiac muscle, and other tissues involved in fatty acid metabolism. 3. **Protein Structure:** The SLC22A5 protein contains a Pdz domain, which is essential for its function as a sodium-dependent cotransporter. 4. **Pathway Involvement:** SLC22A5 is involved in various cellular pathways, including fatty acid metabolism, carnitine metabolism, and xenobiotic detoxification. **Pathways and Functions:** 1. **Fatty Acid Metabolism:** SLC22A5 is essential for the transport of carnitine, which is required for the oxidation of fatty acids in tissues such as skeletal muscle and cardiac muscle. 2. **Carnitine Metabolism:** This gene is involved in the conversion of acyl-carnitine to carnitine in the liver, which is then transported to tissues for fatty acid oxidation. 3. **Xenobiotic Detoxification:** SLC22A5 is also involved in the transport of xenobiotics across the plasma membrane, where they can be detoxified. 4. **Intestinal Epithelial Structure Maintenance:** This gene is positively regulated in intestinal epithelial cells, where it plays a role in maintaining the structure and function of the epithelial barrier. **Clinical Significance:** 1. **Systemic Primary Carnitine Deficiency (CDSP):** Mutations in SLC22A5 have been identified as the cause of CDSP, a disorder characterized by impaired carnitine transport, leading to energy metabolism disorders, including muscle weakness, cardiomyopathy, and developmental delays. 2. **Other Disorders:** SLC22A5 has also been implicated in other disorders, including disorders of transmembrane transporters and xenobiotic transport. 3. **Therapeutic Implications:** Understanding the role of SLC22A5 in carnitine transport and metabolism has significant therapeutic implications for the treatment of CDSP and other disorders associated with impaired carnitine transport. In conclusion, SLC22A5 is a critical gene involved in carnitine transport and metabolism across various cell types. Its dysfunction has significant clinical implications, including the development of systemic primary carnitine deficiency. Further research is needed to fully understand the role of SLC22A5 in human health and disease.

Genular Protein ID: 1476375046

Symbol: S22A5_HUMAN

Name: High-affinity sodium-dependent carnitine cotransporter

UniProtKB Accession Codes:

O76082 A2Q0V1 B2R844 D3DQ87 Q6ZQZ8 Q96EH6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 21 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 60 EMBL 10 Ensembl 2 ExpressionAtlas 1 GO 29 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 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 10 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9618255

Title: cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family.

PubMed ID: 9618255

DOI: 10.1006/bbrc.1998.8669

PubMed ID: 9685390

Title: Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.

PubMed ID: 9685390

DOI: 10.1074/jbc.273.32.20378

PubMed ID: 9916797

Title: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.

PubMed ID: 9916797

DOI: 10.1038/5030

PubMed ID: 17509700

Title: OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2.

PubMed ID: 17509700

DOI: 10.1016/j.bbamcr.2007.04.005

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 10525100

Title: Na(+)-dependent carnitine transport by organic cation transporter (OCTN2): its pharmacological and toxicological relevance.

PubMed ID: 10525100

PubMed ID: 10966938

Title: Functional and pharmacological characterization of human Na(+)-carnitine cotransporter hOCTN2.

PubMed ID: 10966938

DOI: 10.1152/ajprenal.2000.279.3.f584

PubMed ID: 17855766

Title: Transport of butyryl-L-carnitine, a potential prodrug, via the carnitine transporter OCTN2 and the amino acid transporter ATB(0,+).

PubMed ID: 17855766

DOI: 10.1152/ajpgi.00233.2007

PubMed ID: 18005709

Title: The Bacillus subtilis quorum-sensing molecule CSF contributes to intestinal homeostasis via OCTN2, a host cell membrane transporter.

PubMed ID: 18005709

DOI: 10.1016/j.chom.2007.05.004

PubMed ID: 19349973

Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.

PubMed ID: 19349973

DOI: 10.1038/nbt.1532

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20722056

Title: Cytokine regulation of OCTN2 expression and activity in small and large intestine.

PubMed ID: 20722056

DOI: 10.1002/ibd.21444

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 33124720

Title: Deorphaning a solute carrier 22 family member, SLC22A15, through functional genomic studies.

PubMed ID: 33124720

DOI: 10.1096/fj.202001497r

PubMed ID: 33334877

Title: Cholesterol stimulates the cellular uptake of L-carnitine by the carnitine/organic cation transporter novel 2 (OCTN2).

PubMed ID: 33334877

DOI: 10.1074/jbc.ra120.015175

PubMed ID: 35307651

Title: Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier.

PubMed ID: 35307651

DOI: 10.1124/dmd.121.000748

PubMed ID: 10425211

Title: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.

PubMed ID: 10425211

DOI: 10.1006/bbrc.1999.1060

PubMed ID: 10480371

Title: Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

PubMed ID: 10480371

DOI: 10.1007/s004399900105

PubMed ID: 10072434

Title: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

PubMed ID: 10072434

DOI: 10.1093/hmg/8.4.655

PubMed ID: 10545605

Title: Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.

PubMed ID: 10545605

DOI: 10.1093/hmg/8.12.2247

PubMed ID: 10559218

Title: Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.

PubMed ID: 10559218

DOI: 10.1074/jbc.274.47.33388

PubMed ID: 10454528

Title: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.

PubMed ID: 10454528

PubMed ID: 10612840

Title: Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

PubMed ID: 10612840

DOI: 10.1002/(sici)1098-1004(200001)15:1<118::aid-humu28>3.0.co;2-8

PubMed ID: 10679939

Title: A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

PubMed ID: 10679939

DOI: 10.1002/(sici)1098-1004(200003)15:3<238::aid-humu4>3.0.co;2-3

PubMed ID: 11058897

Title: Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

PubMed ID: 11058897

DOI: 10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-j

PubMed ID: 11715001

Title: Phenotype and genotype variation in primary carnitine deficiency.

PubMed ID: 11715001

DOI: 10.1097/00125817-200111000-00002

PubMed ID: 15617188

Title: Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

PubMed ID: 15617188

DOI: 10.1023/b:boli.0000045837.23328.f4

PubMed ID: 15714519

Title: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

PubMed ID: 15714519

DOI: 10.1002/humu.20137

PubMed ID: 16931768

Title: Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).

PubMed ID: 16931768

DOI: 10.1124/mol.106.028126

PubMed ID: 17126586

Title: Expanded newborn screening identifies maternal primary carnitine deficiency.

PubMed ID: 17126586

DOI: 10.1016/j.ymgme.2006.10.003

PubMed ID: 20027113

Title: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

PubMed ID: 20027113

DOI: 10.1097/gim.0b013e3181c5e6f7

PubMed ID: 20574985

Title: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

PubMed ID: 20574985

DOI: 10.1002/humu.21311

PubMed ID: 20074989

Title: Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

PubMed ID: 20074989

DOI: 10.1016/j.ymgme.2009.12.015

PubMed ID: 21922592

Title: Genotype-phenotype correlation in primary carnitine deficiency.

PubMed ID: 21922592

DOI: 10.1002/humu.21607

PubMed ID: 28841266

Title: Functional and molecular studies in primary carnitine deficiency.

PubMed ID: 28841266

DOI: 10.1002/humu.23315

Sequence Information:

  • Length: 557
  • Mass: 62752
  • Checksum: 928B1F6EFF63C48D
  • Sequence:
    • MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC RVPDAANLSS 
AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG RDVDLGQLEQ ESCLDGWEFS 
QDVYLSTIVT EWNLVCEDDW KAPLTISLFF VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ 
TGFSFLQIFS KNFEMFVVLF VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA 
FGYMVLPLFA YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA 
AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML WMTISVGYFG 
LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR YSMATALFLG GSVLLFMQLV 
PPDLYYLATV LVMVGKFGVT AAFSMVYVYT AELYPTVVRN MGVGVSSTAS RLGSILSPYF 
VYLGAYDRFL PYILMGSLTI LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR 
MLKDGQERPT ILKSTAF

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.