Gene: SLC7A9

Alternate names for this Gene: BAT1|CSNU3

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. Alternate transcript variants, which encode the same protein, have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.11

Description of this Gene: solute carrier family 7 member 9

Type of Gene: protein-coding

rs12460876 in SLC7A9 gene and Chronic Kidney Diseases PMID 22479191 2012 Genome-wide association and functional follow-up reveals new loci for kidney function.

PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

rs12460876 in SLC7A9 gene and Creatinine measurement, serum (procedure) PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs1085307095 in SLC7A9 gene and Cystinuria PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 15670723 2005 Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 10471498 1999 Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

PMID 19782624 2010 Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

PMID 12371955 2002 SLC7A9 mutations in all three cystinuria subtypes.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 11157794 2001 Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

PMID 18752446 2008 Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 12820697 2003 Mutation analysis of SLC7A9 in cystinuria patients in Sweden.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 26123750 2015 Thirty unrelated cystinuria patients were analyzed for four of the most common mutations using ARMS-PCR (M467T, T216M) and RFLP-PCR (G105R, R333W) methods.

PMID 25964309 2015 Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

PMID 25296721 2015 Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

PMID 21255007 2012 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

PMID 22480232 2012 Cystinuria: an inborn cause of urolithiasis.

PMID 12234930 2002 The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit.

PMID 25109415 2015 The genetic diversity of cystinuria in a UK population of patients.

PMID 28812535 2017 Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

PMID 17539912 2007 Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

PMID 28717662 2017 Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

rs12460876 in SLC7A9 gene and Glomerular Filtration Rate PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

rs12460876 in SLC7A9 gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

rs10421876 in SLC7A9 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2868194 in SLC7A9 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.