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3-beta-hydroxysteroid-delta(8),delta(7)-isomerase; cholestenol delta-isomerase; delta(8)-delta(7) sterol isomerase; D8-D7 sterol isomerase; emopamil-binding protein (EBP)
Function:
- catalyzes the conversion of delta(8)-sterols to their corresponding delta(7)-isomers
- steroid biosynthesis; cholesterol biosynthesis
5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol
Structure: belongs to the EBP family
Compartment:
- endoplasmic reticulum membrane
- multi-pass membrane protein
Pathology:
- defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2
Notes:
- binds to the phenylalkylamine Ca+2-ion antagonist emopamil, an anti-ischemic drug [1] {drug not used in US}
Related
cholestenol; zymostenol
General
isomerase
transmembrane 4 protein
Properties
SIZE: entity length = 230 aa
MW = 26 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
transmembrane domain {29-49}
transmembrane domain {66-86}
transmembrane domain {121-141}
transmembrane domain {185-205}
Database Correlations
OMIM correlations
UniProt Q15125
Pfam PF05241
Entrez Gene 10682
Kegg hsa:10682
ENZYME 5.3.3.5
References
- UniProt :accession Q15125
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EBP