sameAs
P688
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromePhenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expressionHistidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerizationColocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope levelMutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com
P921
description
Protein
@de
mammalian protein found in Homo sapiens
@en
protein
@id
protein
@sv
proteinë
@sq
proteïne in EBP, cholestenol delta-isomerase
@nl
protèin
@ace
protéine
@fr
بروتين في الإنسان العاقل
@ar
name
EBP cholestenol delta-isomerase
@en
Sterol-Delta8/7-Isomerase
@de
type
label
EBP cholestenol delta-isomerase
@en
Sterol-Delta8/7-Isomerase
@de
altLabel
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
@en
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
@en
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
@en
D8-D7 sterol isomerase
@en
EBP
@en
Emopamil binding protein
@en
cholestenol Delta-isomerase
@en
delta(8)-Delta(7) sterol isomerase
@en
emopamil binding protein (sterol isomerase)
@en
emopamil-binding protein
@en
prefLabel
EBP cholestenol delta-isomerase
@en
Sterol-Delta8/7-Isomerase
@de
P680
P681
P682
P705
P352
P637
P31
P352
P527
P591
P637
P680
P681
P682
P702
P703
P705
ENSP00000390031
ENSP00000405832
ENSP00000417052