SLC7A2

Description

The SLC7A2 (solute carrier family 7 member 2) is a protein-coding gene located on chromosome 8.

SLC7A2, also known as Cationic amino acid transporter 2, is a protein encoded by the SLC7A2 gene in humans. This transporter is involved in the movement of cationic amino acids such as L-arginine, L-lysine, L-ornithine, and L-homoarginine across cell membranes. The affinity for these substrates can vary depending on the specific isoform of SLC7A2 produced by alternative splicing.

SLC7A2 functions as a permease that transports cationic amino acids like L-arginine, L-lysine, L-ornithine, and L-homoarginine. The affinity for these amino acids varies between different isoforms produced by alternative splicing. This variation in affinity suggests a possible role for SLC7A2 in regulating the levels of these amino acids in different tissues. Research also indicates a potential involvement of SLC7A2 in macrophage activation, particularly in classical or alternative activation pathways, due to its role in arginine transport.

SLC7A2 is also known as ATRC2, CAT-2A, CAT-2B, CAT2, HCAT2, SLC7A2A, SLC7A2B.

Associated Diseases

• myoepithelial tumor
• Huntington disease
• hypertriglyceridemia 2
• cholesterol-ester transfer protein deficiency
• hemochromatosis type 5
• tibia, hypoplasia or aplasia of, with polydactyly
• syndactyly type 4
• spondyloepimetaphyseal dysplasia, Missouri type
• Blount disease