Gene: MSMO1

Alternate names for this Gene: DESP4|ERG25|MCCPD|SC4MOL

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q32.3

Description of this Gene: methylsterol monooxygenase 1

Type of Gene: protein-coding

rs1059214 in MSMO1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17046216 in MSMO1 gene and Insulin Resistance PMID 22791750 2012 The meta-analysis of 1497 African Americans and West Africans yielded genome-wide significant associations for SNPs in the SC4MOL gene: rs17046216 (P = 1.7 × 10(-8) and 2.9 × 10(-8) for FI and IR, respectively); and near the TCERG1L gene with rs7077836 as the top scoring (P = 7.5 × 10(-9) and 4.9 × 10(-10) for FI and IR, respectively).

PMID 22791750 2012 Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.

rs760048191 in MSMO1 gene and MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

rs760048191 in MSMO1 gene and Multiple congenital anomalies PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PMID 23622407 2013 Cholesterol metabolism deficiency.

PMID 25896808 2015 Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

PMID 22935719 2012 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 20929975 2011 Malformation syndromes caused by disorders of cholesterol synthesis.

PMID 25148791 2014 Personalized diagnosis and management of congenital cataract by next-generation sequencing.

PMID 8663358 1996 Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

rs760048191 in MSMO1 gene and Muscle hypotonia PMID 25896808 2015 Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

PMID 22935719 2012 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

PMID 20929975 2011 Malformation syndromes caused by disorders of cholesterol synthesis.

PMID 23622407 2013 Cholesterol metabolism deficiency.

PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PMID 8663358 1996 Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

PMID 25148791 2014 Personalized diagnosis and management of congenital cataract by next-generation sequencing.

rs1059214 in MSMO1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.