背景
The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family,
whose members are second messenger intracellular calcium release channels. These
proteins mediate a rise in cytoplasmic calcium in response to receptor activated production
of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in
many processes including cell migration, cell division, smooth muscle contraction, and
neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic aminoterminus that binds inositol triphosphate, six membrane-spanning helices that contribute to
the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been
associated with anhidrosis, suggesting that intracellular calcium release mediated by this
protein is required for eccrine sweat production.
