Biology:B(0,+)-type amino acid transporter 1
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b(0,+)-type amino acid transporter 1, also known as b(0,+)AT1, is a protein which in humans is encoded by the SLC7A9 gene.[1]
Function
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.[1] The protein associates with the protein coded for by SLC3A1.[2]
Clinical significance
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.[1]
See also
- Heterodimeric amino acid transporter
- Solute carrier family
References
- ↑ 1.0 1.1 1.2 "SLC7A9". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11136.
- ↑ "Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT". Nat. Genet. 23 (1): 52–7. September 1999. doi:10.1038/12652. PMID 10471498.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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