1. Gene
  2. Ebp - phenylalkylamine Ca2+ antagonist (emopamil) binding protein Gene

Ebp - phenylalkylamine Ca2+ antagonist (emopamil) binding protein Gene

Mus musculus

Also known as SI; Td; mSI; Pabp

Gene ID: 13595 | Gene type: protein coding

About Ebp

Summary

This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum. This protein catalyses the conversion of delta8 to delta7 sterols, an important step in sterol biosynthesis. Mutations in this gene are responsible for the mouse tattered mutant phenotype. Tattered males are embryonic lethal, while heterozygous females have developmental defects. Deficiency of the related gene in human causes X-linked dominant chondrodysplasia punctata. [provided by RefSeq, May 2015]

Ebp Products(2)

mRNA Protein Name
NM_007898.3 NP_031924.1 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
NM_007898.3 NP_031924.1 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Protein Preferred Names Protein Names

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

D8-D7 sterol isomerase

cholestenol Delta-isomerase

delta(8)-Delta(7) sterol isomerase

tattered

Orthologs Information

Species Symbol Source ID
Homo sapiens Ebp NCBI NCBI:10682