Symbol: Name: ID: |
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 GFS:875 |
Gene name: | SLC22A5 |
Chromosome: | 5q23.3 |
Previous Symbols: | CDSP |
Previous Names: | |
Aliases: | OCTN2, SCD |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1329012 | Rat Genome Database ID: | RGD:3702 |
HGNC ID: | HGNC:10969 | RefSeq IDs: | NM_003060 |
Entrez Gene ID: | 6584 | Ensembl Gene ID: | ENSG00000197375 |
VEGA IDs: | OTTHUMG00000059634 | UniProt ID: | O76082 |
UCSC ID: | uc003kww.3 | OMIM ID: | 603377 |
Pubmed: | PMID9618255 PMID 9916797 PMID 9685390 | ||
CCDS IDs: | CCDSCCDS4154.1 |
SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.
Products for SLC22A5 gene
Catalog | Product Name | Application | Company |
GFS:E00875 | solute carrier family 22 (organic cation/carnitine transporter), member 5; ELISA kit | ELISA | n/a |
GFS:A00875 | solute carrier family 22 (organic cation/carnitine transporter), member 5; Anti | ANTIBODIES | n/a |
GFS:P00875 | solute carrier family 22 (organic cation/carnitine transporter), member 5; Protien | Protien | n/a |