SLC7A9 solute carrier family 7 member 9
Gene ID: 11136, updated on 27-Nov-2024Gene type: protein coding
Also known as: BAT1; CSNU3
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC7A9
- Go to Variation Viewer for SLC7A9 variants
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
| Description | Tests |
|---|---|
| A genome-wide association study of metabolic traits in human urine. GeneReviews: Not available | |
| A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. GeneReviews: Not available | |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Cystinuria | See labs |
| Genetic loci influencing kidney function and chronic kidney disease. GeneReviews: Not available | |
| Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (32830511..32869767, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC7A9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC7A9 database
- Variation ViewerRelated Variants
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