SLC7A7

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

Description

Solute carrier family 7 member 7

Tissue specificity

Tissue enhanced (intestine, kidney)

Predicted location

Intracellular, Membrane

Protein family

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

Chromosome

14 (22773222 - 22829820)

Ensembl ID

ENSG00000155465  (ver. 103.38)

Orthologs

Mouse Slc7a7: ENSMUSG00000000958

UniProt

Q9UM01

neXtProt

NX_Q9UM01

Human splice variants
Mouse splice variants

Protein structure