C1orf106
C1orf106: A Gene with Intriguing Implications
Description
C1orf106 (chromosome 1 open reading frame 106) is a gene located on chromosome 1 in humans. It consists of approximately 140,000 base pairs and encodes a protein of 460 amino acids known as GRASP55 (glycerol-3-phosphate acyltransferase-specific protein of 55 kDa).
GRASP55 is primarily expressed in the liver and plays a vital role in lipid metabolism, specifically in the synthesis of triglycerides, the main form of fat storage in the body. It interacts with various proteins involved in lipid metabolism, including glycerol-3-phosphate acyltransferase (GPAT), an enzyme that initiates triglyceride synthesis.
Associated Diseases
Mutations in the C1orf106 gene have been linked to several diseases, including:
- Non-alcoholic fatty liver disease (NAFLD): A condition characterized by the accumulation of excess fat in the liver in individuals who do not consume excessive alcohol.
- Obesity: C1orf106 mutations have been associated with increased risk of obesity and related complications, such as type 2 diabetes and cardiovascular disease.
- Hypertriglyceridemia: A condition characterized by elevated levels of triglycerides in the blood.
Did you Know ?
A study published in the journal Nature Genetics found that a common genetic variant in the C1orf106 gene was associated with a 20% higher risk of NAFLD. This highlights the significant role that this gene plays in liver health and metabolic disorders.
