ITPR2

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Description

The ITPR2 gene encodes the inositol 1,4,5-trisphosphate receptor type 2 (IP3R2), a crucial protein involved in calcium signaling within cells. IP3R2 acts as a calcium channel, releasing calcium from intracellular stores in response to various stimuli. This process is essential for numerous cellular functions, including muscle contraction, neurotransmission, and cell growth. Mutations in ITPR2 can disrupt calcium homeostasis, leading to a spectrum of disorders.

Associated Diseases

• Spinocerebellar Ataxia Type 15 (SCA15)
• Spinocerebellar Ataxia Type 26 (SCA26)
• Episodic Ataxia Type 2 (EA2)
• Cerebellar Ataxia with Mental Retardation (SCAR)
• Congenital Cerebellar Ataxia (CCA)
• Familial Parkinsonism
• Myoclonus-Dystonia Syndrome
• Progressive Myoclonus Epilepsy
• Neurodevelopmental Disorders
• Autophagy Disorders

Did you know?

ITPR2 is one of three known IP3 receptors, each with distinct tissue distribution and functions.