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SLC7A9 solute carrier family 7 member 9

Also known as: BAT1; CSNU3

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. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Cystinuria
MedGen: C0010691OMIM: 220100GeneReviews: Not available
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Genomic context

Location:
19q13.11
Sequence:
Chromosome: 19; NC_000019.10 (32830511..32870958, complement)
Total number of exons:
13

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