ITPR1

(redirected from DKFZp313N1434)

ITPR1

A gene on chromosome 3p26.1 that encodes an intracellular receptor for a so-called second messenger (inositol 1,4,5-trisphosphate (IP3)) which, once stimulated by IP3, mediates calcium release from the endoplasmic reticulum. The three IP3 receptor subtypes—IP3R1, IP3R2 and IP3R3—are present in the wild as homo- and heterotetramers, are associated with calmodulin and FK506-binding protein, and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.

Molecular pathology
IPTR1 mutations cause spinocerebellar ataxia type 15.