This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene.
ITPR2 Antibody detects endogenous levels of total ITPR2.
Inositol 1,4,5-triphosphate (IP3) functions as a second messenger for a myriad of extracellular stimuli including hormones, growth factors and neurotransmitters. Receptor tyrosine kinases indirectly increase the intracellular levels of IP3 through the activation of phospholipases such as phospholipase C (PLC), which convert phosphatidylinositol-4,5 bisphosphate into IP3 and diacylglycerol (DAG). The inositol 1,4,5-triphosphate receptor, IP3R, acts as an inositol triphosphate (IP3)-gated calcium release channel in a variety of cell types. Three IP3 receptor subtypes have been described and are designated IP3R-I, IP3R-II and IP3R-III. IP3R-I is the predominant IP3R subtype expressed in neuronal tissues and the central nervous system, but is also expressed at high levels in the liver.
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