Entity Details

Primary name MSMO1
Entity type gene
Source Source Link

Details

PrimaryID6307
RefseqGeneNG_042288
SymbolMSMO1
Namemethylsterol monooxygenase 1
Chromosome4
Location4q32.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMSMO1_HUMAN

GO terms

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GOName
GO:0000254 C-4 methylsterol oxidase activity
GO:0005506 iron ion binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0006631 fatty acid metabolic process
GO:0006695 cholesterol biosynthetic process
GO:0008202 steroid metabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016126 sterol biosynthetic process
GO:0016491 oxidoreductase activity

Diseases

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Disease IDSourceNameDescription
616834 OMIMMicrocephaly, 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. The disease is caused by variants affecting the gene represented in this entry.