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SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), 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:
19q13.1
Sequence:
Chromosome: 19; NC_000019.10 (32830511..32870167, complement)
Total number of exons:
13

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SLC7A9 database
  • SNP: GeneView
    SNPs linked from GeneView

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