LMPD Database

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LMP000710

UniProt Annotations

Entry Information
Gene Namephenylalkylamine Ca2+ antagonist (emopamil) binding protein
Protein EntryEBP_MOUSE
UniProt IDP70245
SpeciesMouse
Comments
Comment typeDescription
Catalytic Activity5-alpha-cholest-7-en-3-beta-ol = 5-alpha- cholest-8-en-3-beta-ol.
DiseaseNote=Defects in Ebp are a cause of 'Tattered' (Td) which is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females.
FunctionCatalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
MiscellaneousBinds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.
PathwaySteroid biosynthesis; cholesterol biosynthesis.
SimilarityBelongs to the EBP family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein.