Recombinant human SLC7A9 protein, N-Trx-His, Biotin Conjugated

SLC7A9 belongs to the amino acid-polyamine-organocation (APC) superfamily. It is a disulfide linked heterodimer with the amino acid transport protein SLC3A1. SLC7A9 is involved in the high affinity, sodium independent transport of cystine and neutral and dibasic amino acids (system b (0, +) -like activity) . Thought to be responsible for the high affinity reabsorption of cystine in the kidney tubule. Defects in SLC7A9 are a cause of non type I cystinuria (CSNU) . CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent) ; type II (high excretor) ; type III (moderate excretor) . Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non classic type I cystinuria cases.