SGK1
Unlocking the Secrets of the sgk1 Gene: A Comprehensive Guide
Description
The sgk1 gene, also known as serum/glucocorticoid-regulated kinase 1, is a crucial player in maintaining cellular homeostasis. It encodes a serine/threonine kinase enzyme that plays a vital role in ion and fluid transport, cell survival, and proliferation. Located on chromosome 12q13.13, the sgk1 gene is widely expressed in various tissues, including the kidneys, colon, and brain.
Associated Diseases
Mutations in the sgk1 gene have been linked to a range of diseases, most notably:
- Liddle's syndrome: A rare condition characterized by hypertension, hypokalemia, and metabolic alkalosis.
- Gordon syndrome: A rare genetic disorder involving congenital diaphragmatic hernia, pulmonary hypertension, and recurrent arrhythmias.
- Familial hyperaldosteronism type 1 (FH1): A genetic condition causing excessive production of the hormone aldosterone, leading to hypertension and hypokalemia.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide is affected by Liddle's syndrome, making it one of the rarest genetic disorders.
