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).
Other Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; CDPX2; CPXD; D8-D7 sterol isomerase; delta(8)-Delta(7) sterol isomerase; EBP_HUMAN; emopamil binding protein (sterol isomerase); emopamil-binding protein (sterol isomerase); sterol 8-isomerase
Related Genetics Topics
Identifiers
- NCBI Gene: 10682
- OMIM: 300205
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
