SLC7A9

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. [provided by RefSeq, Jul 2011]

Description

Solute carrier family 7 member 9

Tissue specificity

Group enriched (intestine, kidney)

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

19 (32830509 - 32869767)

Ensembl ID

ENSG00000021488  (ver. 103.38)

Orthologs

Mouse Slc7a9: ENSMUSG00000030492

UniProt

P82251

neXtProt

NX_P82251

Human splice variants
Mouse splice variants

Protein structure