SLC22A5

Name

solute carrier family 22 member 5

Type

protein-coding

Aliases

CDSP, OCTN2

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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].

via MyGene.info

Gene · Ensembl

solute carrier family 22 member 5

Symbol

SLC22A5

Biotype

Protein coding

Organism

Homo sapiens

Location

5:132,369,493-132,395,615

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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