EBP wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EBP wild-type allele is located in the vicinity of Xp11.23 and is approximately 7 kb in length. This allele, which encodes 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase protein, plays a role in the metabolism of cholestenol. Mutation of the gene is associated with X-linked dominant chondrodysplasia punctata 2 (also known as Conradi-Hunermann syndrome or Happle syndrome) and male EBP disorder with neurological defects (MEND) syndrome.

**Synonyms:** - CDPX2 - CHO2 - CPX - CPXD - Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome) Gene - EBP Cholestenol Delta-Isomerase wt Allele - Emopamil Binding Protein (Sterol Isomerase) Gene - Emopamil-Binding Protein (Sterol Isomerase) Gene - MEND