Entrez gene ID | | 788 |
Official gene symbol | | SLC25A20 |
Full name | | solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 |
Aliases | | ,CAC,CACT, |
Gene summary | | This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3p21.31 |
Gene position | | 48936402 - 48894356 Map Viewer |
Gene orientation | | minus |
Gene size | | 42047 bp |
Gene sequence |
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OMIM ID | | 212138 |
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