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

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

种属: Mus musculus

同用名: SI; Td; mSI; Pabp

基因 ID: 13595 | 基因类型: protein coding

关于 Ebp

功能概要

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 基因产物(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
蛋白主名 其他名称

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

D8-D7 sterol isomerase

cholestenol Delta-isomerase

delta(8)-Delta(7) sterol isomerase

tattered

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Ebp NCBI NCBI:10682