The slc3a2 gene encodes a cell surface transmembrane transporter subunit protein localized to the plasma membrane and cytoplasmic vesicles. It forms a heterodimeric complex with a catalytic light chain...[+]

The slc3a2 gene encodes a cell surface transmembrane transporter subunit protein localized to the plasma membrane and cytoplasmic vesicles. It forms a heterodimeric complex with a catalytic light chain to create a functional amino acid transporter. This transporter mediates sodium-independent uptake of neutral and basic amino acids, including arginine, lysine, and leucine. Expression is detected in the oocyte membrane and early embryo membranes where it facilitates the transport of amino acids necessary for early developmental processes. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD