HMDB0000032 (7-Dehydrocholesterol) HMDB0000067 (Cholesterol) HMDB0000142 (Formic acid) HMDB0000217 (NADP) HMDB0000221 (NADPH) HMDB0000227 (Mevalonic acid) HMDB0000250 (Pyrophosphate) HMDB0000256 (Squalene) HMDB0000538 (Adenosine triphosphate) HMDB0000547 (Magnesium)
- HMDB0000032 (7-Dehydrocholesterol)
- Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
- ebp contains the code for the enzyme 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase, which normally catalyzes the conversion of delta(8)-sterols to their corresponding delta(7)-isomers. a defect in this enzyme causes accumulation of 8-dehydrocholesterol and 8(9)cholestenol in the plasma.
- Parent Term
- Biochemical pathway
- Parent Definition
- A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
- Other Metabolites Mapped to 'Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)'