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

Also Known as SI; Td; mSI; Pabp

生物種: Mus musculus

遺伝子タイプ: protein coding
遺伝子ID: 13595

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

生物種 Symbol 由来 ID
Homo sapiens Ebp NCBI NCBI:10682