Skip to
  1. Homepage
  2. Rare diseases
  3. Genes
Simple search

Simple search

(*) mandatory field


EBP - emopamil binding protein (sterol isomerase)

Synonym(s) 3-beta-hydroxysteroid-delta-8,delta-7-isomerase, CHO2, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome), CPX, CPXD, sterol 8-isomerase
Previous symbols and names CDPX2, emopamil-binding protein (sterol isomerase)
Type gene with protein product
Chromosomal location Xp11.23-p11.22
HGNC 3133
Genatlas EBP
Ensembl ENSG00000147155
Reactome Q15125

Diseases list

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.