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EBP - emopamil binding protein (sterol isomerase)

Orpha number ORPHA121250
OMIM 300205
HGNC 3133
UniProtKB Q15125
Genatlas EBP
Ensembl ENSG00000147155
Reactome Q15125
Synonym(s) 3-beta-hydroxysteroid-delta-8,delta-7-isomerase, CDPX2, CHO2, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome), CPX, CPXD, emopamil-binding protein (sterol isomerase), sterol 8-isomerase

Diseases list

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