EBP Gene

The EBP gene (EBP stands for emopamil-binding protein) is a protein-coding gene located on chromosome Xp11.23. The protein encoded by this gene, an isomerase, is an integral membrane protein of the endoplasmic reticulum. It is a binding protein with high affinity for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity marker [3H]azidopamil. It resembles sigma receptors and may belong to a superfamily of high-affinity drug-binding proteins in the endoplasmic reticulum of various tissues.

This protein shares structural features with bacterial and eukaryotic drug transport proteins. It has four putative transmembrane segments and contains two conserved glutamate residues that may be involved in the transport of cationic amphiphiles.

Diseases associated with EBP include:

Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hünermann-Happle syndrome; OMIM: 302690) characterized dermatologically by congenital ichthyosiform erythroderma, by pigmentary abnormalities, partial alopecia and inconstantly by abnormalities of the finger and toe nails.

Mend syndrome (OMIM: 300960) a rare syndromal disorder of sterol biosynthesis and dermatologically characterized by collodion membrane, ichthyosis, and patchy hypopigmentary lesions associated with severe neurologic involvement.

1. Arnold AW et al (2012) Conradi-Hünermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects). Br J Dermatol 166:1309-1313.
2. Barboza-Cerda MC et al (2019) Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes. Mol Genet Genomic Med 7:e931.
3. de Almeida H Jr et al (2017) MEND syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane. Acta Derm Venereol 97:110-111.
4. Ozyurt K et al (2015) Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis. Indian J Dermatol 60:216.