SLC7A4

Chr 22

solute carrier family 7 member 4

Also known as: CAT-4, CAT4, HCAT3, VH

NCBI Gene: 6545 ENSG00000099960 UniProt: O43246 OMIM: 603752

The SLC7A4 protein transports cationic amino acids including arginine, lysine, and ornithine across cell membranes. Mutations cause autosomal recessive lysinuric protein intolerance, characterized by defective amino acid transport leading to hyperammonemia, failure to thrive, hepatosplenomegaly, and osteoporosis typically presenting in infancy or early childhood. The gene shows tolerance to loss-of-function variants (low constraint), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.23

LOEUF

Multiple*

Mechanism· predicted