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 three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:28673550, PubMed:23583456, PubMed:26114596). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation (PubMed:26038696).

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: 4q32.3, which is the long (q) arm of chromosome 4 at position 32.3

Molecular Location: base pairs 165,327,666 to 165,343,164 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 4q32.3, which is the long (q) arm of chromosome 4 at position 32.3
  • DESP4
  • ERG25
  • MCCPD
  • SC4MOL