Entrez gene ID | | 6519 |
Official gene symbol | | SLC3A1 |
Full name | | solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 |
Aliases | | ,ATR1,CSNU1,D2H,FLJ34681,NBAT,RBAT, |
Gene summary | | This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2p16.3 |
Gene position | | 44502597 - 44547963 Map Viewer |
Gene orientation | | plus |
Gene size | | 45367 bp |
Gene sequence |
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OMIM ID | | 104614 |
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