Human EBP (3-beta-hydroxysteroid-Delta (8),Delta (7)-isomerase) ELISA KIT (HUFI05284)

The EBP target protein, also called emopamil-binding protein or cholestenol Delta-isomerase, catalyzes a late-step conversion of Delta(8)-sterols to Delta(7)-sterols within the cholesterol biosynthesis pathway. Mutations in the EBP gene cause X-linked dominant Conradi-Hünermann-Happle syndrome (CDPX2), a form of chondrodysplasia punctata marked by asymmetric limb shortening, epiphyseal calcifications, cataracts, and cutaneous ichthyosis. Quantitative measurement of circulating EBP therefore supports research into inherited sterol metabolism disorders, dermatology studies of ichthyosiform erythroderma, and investigations of abnormal chondrogenesis. This Assay Genie kit is supplied in a 96 Assays format. The microplate and reagents should be stored at 4 degrees C, and the kit is intended for research use only.