Recombinant Human B (0,+)-type amino acid transporter 1 (SLC7A9), Truncated

Uniprot Id

P82251

Target Species

Human

Target Name

SLC7A9

Target Full Name

b(0,+)-type amino acid transporter 1

Target Function

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.

Target Involvement

Cystinuria (CSNU)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein.

Target Protein Families

Amino acid-polyamine-organocation (APC) superfamily

Target Tissue Specificity

Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.

Target Synonyms

SLC7A9; BAT1b(0,+)-type amino acid transporter 1; b(0,+)AT1; Glycoprotein-associated amino acid transporter b0,+AT1; Solute carrier family 7 member 9

Target Background

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene.