The ITPR1 gene provides instructions for making a protein that is part of a channel that controls the flow of positively charged calcium atoms (calcium ions) within cells. Four ITPR1 protein molecules join together in a complex (a homotetramer) to form the channel. In response to certain signals, the ITPR1 channel releases calcium ions from storage in a cell structure called the endoplasmic reticulum into the surrounding cell fluid (the cytoplasm). Proper regulation of calcium ion concentration inside cells is important for the development and function of various tissues and organs.
Other Names
IP3R; IP3R1
Related Genetics Topics
Identifiers
- NCBI Gene: 3708
- OMIM: 117360
- OMIM: 147265
- OMIM: 606658
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
