rs869025577

This is a variant in the MSMO1 gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

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About MSMO1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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