Gene Symbol | MSMO1 |
Entrez Gene ID | 6307 |
Full Name | methylsterol monooxygenase 1 |
Synonyms | DESP4,ERG25,MCCPD,SC4MOL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3) |