InterPro domain: IPR040177

This entry includes proteins involved in intracellular zinc homeostasis. A mutation in the human gene leads to an autosomal recessive cerebro-renal syndrome associated with early-onset neurological deterioration, severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia [ 1 ]. An uncharacterized homologue from Arabidopsis thaliana is known as metal tolerance protein C4 (MTPC4).

1. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain 140, 928-939