ITPR1 : inositol 1,4,5-trisphosphate receptor type 1
Description
The ITPR1 gene encodes the inositol 1,4,5-trisphosphate receptor type 1 (IP3R1), a calcium channel protein that plays a critical role in intracellular calcium signaling. IP3R1 is expressed in various tissues, including the brain, heart, and skeletal muscle, and its proper functioning is essential for numerous physiological processes, such as neuronal communication, muscle contraction, and hormone secretion. When IP3R1 malfunctions, it can disrupt calcium homeostasis and lead to various diseases.
Associated Diseases
- Spinocerebellar ataxia type 15 (SCA15)
- Parkinson‘s disease
- Alzheimer‘s disease
- Huntington‘s disease
- Autism spectrum disorder
- Schizophrenia
- Cancer (especially breast and prostate cancer)
- Cardiomyopathy
Did you know?
Mutations in ITPR1 are linked to a rare neurological disorder called spinocerebellar ataxia type 15 (SCA15), characterized by progressive degeneration of the cerebellum.
