Entity Details

Primary name SLC22A5
Entity type gene
Source Source Link

Details

PrimaryID6584
RefseqGeneNG_008982
SymbolSLC22A5
Namesolute carrier family 22 member 5
Chromosome5
Location5q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-07
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS22A5_HUMAN

GO terms

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GOName
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006814 sodium ion transport
GO:0009609 response to symbiotic bacterium
GO:0015226 carnitine transmembrane transporter activity
GO:0015293 symporter activity
GO:0015651 quaternary ammonium group transmembrane transporter activity
GO:0015697 quaternary ammonium group transport
GO:0015879 carnitine transport
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030165 PDZ domain binding
GO:0031526 brush border membrane
GO:0042910 xenobiotic transmembrane transporter activity
GO:0060731 positive regulation of intestinal epithelial structure maintenance
GO:0070062 extracellular exosome
GO:0070715 sodium-dependent organic cation transport
GO:0150104 transport across blood-brain barrier
GO:1901235 (R)-carnitine transmembrane transporter activity
GO:1902270 (R)-carnitine transmembrane transport
GO:1902603 carnitine transmembrane transport
GO:1990961 xenobiotic detoxification by transmembrane export across the plasma membrane

Diseases

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Disease IDSourceNameDescription
212140 OMIMSystemic primary carnitine deficiency (CDSP)Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry.