EBP : EBP cholestenol delta-isomerase
Description
The EBP (EBP cholestenol delta-isomerase) is a protein-coding gene located on chromosome X.
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).
EBP is also known as CDPX2, CHO2, CPX, CPXD, MEND.
Associated Diseases
- Mend syndrome
- X-linked dominant chondrodysplasia punctata
- Chondrodysplasia punctata 2, X-linked dominant
- MEND syndrome
- X-linked chondrodysplasia punctata 2
