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Reviewed July 2008
What is the official name of the NSDHL gene?
The official name of this gene is “NAD(P) dependent steroid dehydrogenase-like.”
NSDHL is the gene's official symbol. The NSDHL gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the NSDHL gene?
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, fish, and dairy products. The body can also make (synthesize) 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 removes a carbon atom and three hydrogen atoms (a methyl group) in the conversion of lanosterol to cholesterol.
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 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 used in digestion (bile acids).
Does the NSDHL gene share characteristics with other genes?
The NSDHL gene belongs to a family of genes called SDR (short chain dehydrogenase/reductase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the NSDHL gene related to health conditions?
Where is the NSDHL gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 152,830,966 to 152,869,362
The NSDHL gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the NSDHL gene is located from base pair 152,830,966 to base pair 152,869,362 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NSDHL?
You and your healthcare professional may find the following resources about NSDHL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the NSDHL gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NSDHL?
acids ; atom ; bile ; carboxylate ; cell ; cholesterol ; congenital ; dehydrogenase ; digestion ; egg ; enzyme ; erythroderma ; gene ; ichthyosiform ; lipid ; methyl ; molecule ; protein ; syndrome ; synthesis ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.