SSTR1
SSTR1 Gene: A Comprehensive Guide
Description
The SSTR1 gene, also known as the somatostatin receptor 1 gene, encodes the somatostatin receptor subtype 1 protein. Somatostatin is a neuropeptide that plays a crucial role in regulating various physiological processes, including growth, development, and metabolism. The SSTR1 receptor is a G protein-coupled receptor that mediates the cellular response to somatostatin. It is found in various tissues and organs throughout the body, including the brain, pancreas, and gastrointestinal tract.
Associated Diseases
Mutations in the SSTR1 gene have been associated with several diseases, including:
- Acromegaly: A condition characterized by excessive growth hormone secretion, leading to enlargement of the hands, feet, and face.
- Gigantism: A condition in which excessive growth hormone is produced during childhood, resulting in unusually tall stature.
- Neuroendocrine tumors: Cancers that arise from cells that produce hormones or release hormones into the bloodstream.
- Diabetes mellitus: A metabolic disorder characterized by high blood sugar levels.
Did you Know ?
Studies have shown that approximately 10% of acromegaly cases are caused by mutations in the SSTR1 gene.