Protein Variants | Comment | Organism |
---|---|---|
H173Q | the mutation is associated with sterol-C4-methyl oxidase deficiency | Homo sapiens |
Y244C | the mutation is associated with sterol-C4-methyl oxidase deficiency | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q15800 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
SMO | - |
Homo sapiens |
sterol-C4-methyl oxidase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
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 | Homo sapiens |