General Description
The gene ITPR1 (inositol 1,4,5-triphosphate receptor type 1) encodes an intracellular receptor that binds to inositol 1,4,5 trisphosphate. It is localized to membranes of endoplasmatic or sarcoplasmatic (in muscle cells) reticulum. The gene is mapped to human chromosome 3p26.
Biochem/physiol Actions
The ligand-gated calcium channel encoded by the gene ITPR1 (inositol 1,4,5-triphosphate receptor type 1) is stimulated upon binding to its ligand inositol 1,4,5-triphosphate, and mediates intracellular calcium signaling. It facilitates the release of Ca2+ from endoplasmic reticulum and modulates intracellular Ca2+ concentration. This is a crucial mechanism in the initial stages of myoblast differentiation. Mutations in this gene have been associated with sporadic infantile-onset cerebellar ataxia.
