SERHL2
The SERHL2 Gene: A Comprehensive Guide
Description:
The SERHL2 gene, located on human chromosome 22, encodes a protein called serine hydrolase 2. This protein is primarily found in the liver and plays a crucial role in various physiological processes, including:
- Lipid metabolism
- Cholesterol homeostasis
- Bile acid synthesis
- Protein degradation
Associated Diseases:
Mutations in the SERHL2 gene have been linked to several inherited disorders, including:
- Niemann-Pick Type C2 Disease: A rare autosomal recessive disorder characterized by the accumulation of cholesterol and other lipids in cells. Symptoms include liver enlargement, neurological impairment, and respiratory problems.
- Cholesterolosis: A condition in which excessive cholesterol accumulates in the liver, leading to liver enlargement and inflammation.
- Hypertriglyceridemia: A high level of triglycerides in the blood, which can increase the risk of cardiovascular disease.
Did you Know ?
Studies have found that mutations in the SERHL2 gene are responsible for approximately 15% of cases of Niemann-Pick Type C2 Disease.
