Disease-gene associations mined from literature

Literature associating SLC7A7 and lysinuric protein intolerance

SLC7A7 [ENSP00000380666]

Y+L amino acid transporter 1; 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. ECO:0000269|PubMed:17329401, ECO:0000269|PubMed:9829974,; Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.

Synonyms:  SLC7A7,  SLC7A7p,  hSLC7A7,  A0A0S2Z502,  D6RFE5 ...

Linkouts:  STRING  Pharos  UniProt