DISEASES

Disease-gene associations mined from literature

Literature associating SLC1A5 and cystinuria

SLC1A5 [ENSP00000444408]

Solute carrier family 1 (neutral amino acid transporter), member 5; Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids. Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development; Minor histocompatibility antigens

Synonyms:  SLC1A5,  SLC1A5p,  hSLC1A5,  M0QXM4,  M0R144 ...

Linkouts:  STRING  Pharos  UniProt  OMIM