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Official Full Name: solute carrier family 3 member 1
Also known as: D2H; ATR1; NBAT; RBAT; CSNU1
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.