RCL1
rcl1 Gene: Unlocking the Secrets of Metabolism and Disease
Description
The rcl1 gene (also known as GSNOR or glutamine synthetase-related protein 1) plays a crucial role in the body‘s metabolism and cellular functions. It encodes an enzyme called glutamine synthetase, which is responsible for incorporating ammonia into glutamine, an essential amino acid for cell growth and proliferation.
Associated Diseases
Defects in the rcl1 gene have been linked to a range of human diseases, including:
- Hepatocellular carcinoma (HCC): RCL1 mutations are found in approximately 15-20% of HCC cases.
- Pancreatic cancer: RCL1 alterations are associated with increased tumor growth and poor prognosis.
- Bladder cancer: Mutations in rcl1 may contribute to the development of bladder cancer.
- Hereditary encephalopathy: Mutations in rcl1 have been identified in individuals with progressive encephalopathy.
Did you Know ?
In a study of HCC patients, those with RCL1 mutations had a significantly shorter median survival time than those without mutations.
