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1.14.18.9: 4alpha-methylsterol monooxygenase

This is an abbreviated version!
For detailed information about 4alpha-methylsterol monooxygenase, go to the full flat file.

Word Map on EC 1.14.18.9

Reaction

3beta-hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carbaldehyde
+ 2 ferrocytochrome b5 +
O2
 + 2 H+ =
3beta-hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
 + 2 ferricytochrome b5 +
H2O

Synonyms

4,4-dimethyl-sterol 4alpha-methyl-oxidase, 4,4-dimethyl-zymosterol 4alpha-methyl-oxidase, 4-methyl sterol oxidase, 4-methylsterol oxidase, C-4 methyl sterol oxidase, C-4 sterol methyl oxidase, EC 1.14.13.72, EC 1.14.99.16, ERG25, ERG25p, GintSMO protein, methyl sterol oxidase, methylsterol hydroxylase, methylsterol monooxygenase, NAD(P)H-dependent methylsterol oxidase, SC4MOL, SMO, sterol C-4 methyloxidase, sterol C4 methyl oxidase, sterol-C4-methyl oxidase, sterol-C4-methyl-oxidase

ECTree

     1 Oxidoreductases
         1.14 Acting on paired donors, with incorporation or reduction of molecular oxygen
             1.14.18 With another compound as one donor, and incorporation of one atom of oxygen into the other donor
                1.14.18.9 4alpha-methylsterol monooxygenase

Disease

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Disease on EC 1.14.18.9 - 4alpha-methylsterol monooxygenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
4alpha-methylsterol monooxygenase deficiency
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Malformation syndromes caused by disorders of cholesterol synthesis.
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
The role of sterol-C4-methyl oxidase in epidermal biology.
Antley-Bixler Syndrome Phenotype
Malformation syndromes caused by disorders of cholesterol synthesis.
Sterol metabolism disorders and neurodevelopment-an update.
Carcinoma
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Carcinoma, Ovarian Epithelial
[Analysis of gene expression profiles among 3 epithelial ovarian tumor subtypes using cDNA and tissue microarrays]
Cataract
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
Chondrodysplasia Punctata
Malformation syndromes caused by disorders of cholesterol synthesis.
Sterol metabolism disorders and neurodevelopment-an update.
Dermatitis
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Dermatomycoses
Assessment of the mechanism of drug resistance in Trichophyton mentagrophytes in response to various substances.
Dyslipidemias
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
Role of dipeptidyl peptidase IV (DPP4) in the development of dyslipidemia: DPP4 contributes to the steroid metabolism pathway.
Intellectual Disability
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Learning Disabilities
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Mevalonate Kinase Deficiency
Sterol metabolism disorders and neurodevelopment-an update.
Microcephaly
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
Myopia
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Neoplasms
Axon growth and guidance genes identify T-dependent germinal centre B cells.
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Nevus
Sterol metabolism disorders and neurodevelopment-an update.
Obesity
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
Psoriasis
The role of sterol-C4-methyl oxidase in epidermal biology.
Smith-Lemli-Opitz Syndrome
Malformation syndromes caused by disorders of cholesterol synthesis.
Sterol metabolism disorders and neurodevelopment-an update.