Itr305

Itr305 is a protein-coding gene located on chromosome 19 in humans. It is a member of the Itpr family of proteins, which are involved in the regulation of intracellular calcium signaling. The Itpr proteins are characterized by their ability to bind to inositol 1,4,5-trisphosphate (IP3) and phospholipids, and they play a crucial role in the regulation of calcium release from the endoplasmic reticulum (ER).

The Itr305 protein is a 305 amino acid long protein that is expressed in various tissues, including the brain, heart, and skeletal muscle. It is involved in the regulation of calcium signaling in these tissues, and its expression levels are regulated by various factors, including hormonal and neural stimuli.

Mutations in the Itr305 gene have been associated with several diseases, including ataxia, a neurological disorder characterized by loss of coordination and muscle control. The exact mechanism by which Itr305 mutations cause ataxia is not fully understood, but it is thought to be related to the disruption of calcium signaling in the brain.

In summary, Itr305 is a protein-coding gene that plays a crucial role in the regulation of intracellular calcium signaling. Mutations in this gene have been associated with ataxia, a neurological disorder. Further research is needed to fully understand the role of Itr305 in health and disease.