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Reviewed November 2011
What is the official name of the EBP gene?
The official name of this gene is “emopamil binding protein (sterol isomerase).”
EBP is the gene's official symbol. The EBP 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 EBP gene?
The EBP gene provides instructions for making an enzyme called 3β-hydroxysteroid-Δ8,Δ7-isomerase. This enzyme is responsible for one of the final steps in the production of cholesterol. Specifically, it converts a molecule called 8(9)-cholestenol to lathosterol. Other enzymes then modify lathosterol to produce cholesterol.
Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and plays a role in the production of certain hormones and acids used in digestion (bile acids).
How are changes in the EBP gene related to health conditions?
Where is the EBP gene located?
Cytogenetic Location: Xp11.23-p11.22
Molecular Location on the X chromosome: base pairs 48,521,776 to 48,528,716
The EBP gene is located on the short (p) arm of the X chromosome between positions 11.23 and 11.22.
More precisely, the EBP gene is located from base pair 48,521,776 to base pair 48,528,716 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EBP?
You and your healthcare professional may find the following resources about EBP 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 EBP 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 EBP?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.