MSMO1 gene

methylsterol monooxygenase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol.

From NCBI Gene:

  • Microcephaly, congenital cataract, and psoriasiform dermatitis

From UniProt:

Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD): An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. [MIM:616834]

Cytogenetic Location: 4q32-q34, which is the long (q) arm of chromosome 4 between positions 32 and 34

Molecular Location: base pairs 165,327,666 to 165,343,164 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q32-q34, which is the long (q) arm of chromosome 4 between positions 32 and 34
  • DESP4
  • ERG25
  • MCCPD
  • SC4MOL