The NSDHL gene provides instructions for making an enzyme that is involved in the production (synthesis) of cholesterol. Cholesterol is a lipid (fat) that is obtained from foods that come from animals, particularly egg yolks, meat, and dairy products. The body can also make its own cholesterol. During cholesterol synthesis, the NSDHL enzyme participates in one of several steps that convert a molecule called lanosterol to cholesterol. Specifically, the NSDHL enzyme is part of an enzyme complex that removes a carbon atom and three hydrogen atoms (a methyl group) from lanosterol.
Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally. Before birth, cholesterol interacts with signaling proteins that control the early development of the brain, limbs, genital tract, and other structures. It is also an important component of cell membranes and myelin, the fatty covering that insulates nerve cells. Additionally, cholesterol is used to make certain hormones and is important for the production of acids that are used in digestion (bile acids).
Other Names
H105e3; NAD(P) dependent steroid dehydrogenase-like; SDR31E1; XAP104
Related Genetics Topics
Identifiers
- NCBI Gene: 50814
- OMIM: 300275
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
