SLC7A7 Antibody – Rabbit Polyclonal

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]

SLC7A7: 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. Defects in SLC7A7 are the cause of lysinuric protein intolerance (LPI). LPI is an autosomal recessive multisystem disorder found mainly in Finland and Italy. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life- threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by a defect in the plasma membrane transport of dibasic amino acids. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter, SLC family; Transporter

Chromosomal Location of Human Ortholog: 14q11.2

Cellular Component: basolateral plasma membrane; integral to plasma membrane; plasma membrane

Molecular Function: amino acid transmembrane transporter activity

Biological Process: amino acid metabolic process; amino acid transport; transport; ion transport; protein complex assembly; blood coagulation; transmembrane transport; leukocyte migration

Disease: Lysinuric Protein Intolerance