EC Number   |
General Information |
Reference |
|---|
    1.14.18.9 | malfunction |
deficiency of sterol C4 methyl oxidase, is associated with microcephaly, congenital cataracts, and growth delay in infancy |
727093 |
| 1.14.18.9 | malfunction |
mutations in methyl sterol oxidase cause psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. Enzyme deficiency also substantially alters immunocyte phenotype and in vitro function |
728037 |
| 1.14.18.9 | metabolism |
first of three steps to remove 2 C4 methyl groups from an intermediate in ergosterol biosynthesis in the sterol biosynthetic pathway, an enzymatic complex is formed with other enzymes in the pathway |
698075 |
| 1.14.18.9 | physiological function |
the enzyme regulates epidermal growth factor receptor signaling and vesicular trafficking |
727093 |
