SLC3A1 Antibody – Mouse Polyclonal

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. [provided by RefSeq, Jul 2008]

Function: 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. Ref.1 Ref.3 Ref.4 Ref.6

Subunit structure: Disulfide-linked heterodimer with the amino acid transport protein SLC7A9. Ref.11

Subcellular location: Membrane; Single-pass type II membrane protein

Potential.

Tissue specificity: Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. Ref.1 Ref.3

Involvement in disease: Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.12 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20Hypotonia-cystinuria syndrome (HCS) [MIM:606407]: Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13