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MGP002912

Record overview

MGPD IDMGP002912
Gene ID6584
SpeciesHomo sapiens (Human)
Gene Namesolute carrier family 22 (organic cation/carnitine transporter), member 5
Gene Symbol SLC22A5
SynonymsCDSP; OCTN2; OCTN2VT;
Alternate namessolute carrier family 22 member 5; high-affinity sodium dependent carnitine cotransporter; organic cation/carnitine transporter 2;
Chromosome5
Map Location5q23.3
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, Jul 2008]
OrthologsView orthologs and multiple alignments for SLC22A5

Proteins

solute carrier family 22 member 5
Refseq ID:NP_003051
Protein GI:4507005
UniProt ID:O76082
mRNA ID:NM_003060
Length:557
RefSeq Status:
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPG
RDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLF
VLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA
AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRR
YSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTI
LTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF
 
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