QuickView for SLC22A5 (gene)

Gene Symbol:

SLC22A5 Homo sapiens

Full name:

solute carrier family 22 member 5

Synonyms:

CDSP, OCTN2, solute carrier family 22 member 5, high-affinity sodium dependent carnitine cotransporter, organic cation/carnitine transporter 2

Genomic Location:

Chr 5: 131733343-131759205

Description:

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-de...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GTGCCAA_MIR96 ,  GTGCCTT_MIR506 ,  AACTTT_UNKNOWN

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-182

miRNA binding sites
(Source: miRecords):

hsa-miR-124 Targeted Genes

Cytogenetic Map:

5q31.1

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