Amino Acid Transporter Heavy Chain Slc3A1 (SLC3A1) Reagents

Amino acid transporter heavy chain SLC3A1

Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.

Cystinuria (CSNU); Hypotonia-cystinuria syndrome (HCS)

Membrane; Single-pass type II membrane protein.

Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver.

D2H; ATR1; NBAT; RBAT; CSNU1; SLC3A1

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.