Aliases for SLC7A9 Gene
- Solute Carrier Family 7 Member 9 2 3 4 5
- Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Bo,+ System), Member 9 2 3
- Glycoprotein-Associated Amino Acid Transporter B0,+AT1 3 4
- BAT1 3 4
- Solute Carrier Family 7 (Glycoprotein-Associated Amino Acid Transporter Light Chain, Bo,+ System), Member 9 3
- Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 9 3
External Ids for SLC7A9 Gene
Previous HGNC Symbols for SLC7A9 Gene
Previous GeneCards Identifiers for SLC7A9 Gene
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]
GeneCards Summary for SLC7A9 Gene
SLC7A9 (Solute Carrier Family 7 Member 9) is a Protein Coding gene. Diseases associated with SLC7A9 include Cystinuria and Amino Acid Metabolic Disorder. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and antiporter activity. An important paralog of this gene is SLC7A5.
UniProtKB/Swiss-Prot for SLC7A9 Gene
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.