Entrez gene ID | | 11136 |
Official gene symbol | | SLC7A9 |
Full name | | solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
Aliases | | ,BAT1,CSNU3,FLJ94301, |
Gene summary | | This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Two transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.1 |
Gene position | | 33360683 - 33321417 Map Viewer |
Gene orientation | | minus |
Gene size | | 39267 bp |
Gene sequence |
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OMIM ID | | 604144 |
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