solute carrier family 7 member 9
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalNephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalUndiagnosed metabolic disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
cystinuria
cystine urolithiasis
hereditary disease
gout
cystinuria type B
Bethlem myopathy
Bethlem myopathy 1A
chronic kidney disease
Nephropathy
nephritis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
b(0,+)-type amino acid transporter 1
Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:8663357). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PubMed:16825196, PubMed:32494597, PubMed:8663357). Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine (PubMed:8663357). Required for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in renal proximal tubules
SLC7A9 · P82251
Mean pLDDT
85.4/ 100
Confident
487 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
