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.
Pathway
Amino acid transport across the plasma membrane; Cell surface interactions at the vascular wall; Protein digestion and absorption; SLC-mediated transmembrane transport
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More
Citations
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Brauers, E; Schmidt, C; et al. Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype. CLINICAL NEPHROLOGY 65:262-266(2006).
Schmidt, C; Albers, A; et al. Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease. CLINICAL NEPHROLOGY 57:342-348(2002).
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Certificate of Analysis