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EBP - emopamil binding protein (sterol isomerase)

ORPHA121250
Synonym(s) 3-beta-hydroxysteroid-delta-8,delta-7-isomerase, CHO2, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome), CPX, CPXD, sterol 8-isomerase
Previous symbols and names CDPX2, emopamil-binding protein (sterol isomerase)
Type gene with protein product
Chromosomal location Xp11.23-p11.22
OMIM
HGNC 3133
UniProtKB
Genatlas EBP
Ensembl ENSG00000147155
IUPHAR-DB -
Reactome Q15125

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