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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SLC22A5 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6584
Official gene symbolSLC22A5
Full namesolute carrier family 22 (organic cation/carnitine transporter), member 5
Aliases,CDSP,FLJ46769,OCTN2,OCTN2VT,
Gene summaryPolyspecific 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]
LocationChromosome: 5   Locus: 5q31
Gene position131705401 - 131731306  Map Viewer
Gene orientationplus
Gene size25906 bp
Gene sequence
OMIM ID603377