Aliases for SLC7A7 Gene
External Ids for SLC7A7 Gene
Previous HGNC Symbols for SLC7A7 Gene
Previous GeneCards Identifiers for SLC7A7 Gene
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
GeneCards Summary for SLC7A7 Gene
SLC7A7 (Solute Carrier Family 7 Member 7) is a Protein Coding gene. Diseases associated with SLC7A7 include Lysinuric Protein Intolerance and Cystinuria. Among its related pathways are Platelet activation, signaling and aggregation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include amino acid transmembrane transporter activity and L-amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A6.
UniProtKB/Swiss-Prot for SLC7A7 Gene
Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes.