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Literature summary for 1.14.18.9 extracted from

  • He, M.; Smith, L.D.; Chang, R.; Li, X.; Vockley, J.
    The role of sterol-C4-methyl oxidase in epidermal biology (2013), Biochim. Biophys. Acta, 1841, 331-335.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.14.18.9

Protein Variants

Protein Variants Comment Organism
H173Q the mutation is associated with sterol C4 methyl oxidase deficiency Homo sapiens
Y244C the mutation is associated with sterol C4 methyl oxidase deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast inhibition of sterol C4methyl oxidase induces activation of the cell cycle Homo sapiens
-
keratinocyte epidermal Homo sapiens
-
leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + 3 reduced acceptor + 3 O2
-
 Homo sapiens (3beta,4alpha)-3-hydroxy-4-methylcholesta-8,14-24-triene-4-carboxylate + 3 acceptor + 3 H2O
-
 ?

Synonyms

Synonyms Comment Organism
SC4MOL
-
 Homo sapiens
sterol C4 methyl oxidase
-
 Homo sapiens
sterol-C4-methyl oxidase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of sterol C4 methyl oxidase, is associated with microcephaly, congenital cataracts, and growth delay in infancy Homo sapiens
physiological function the enzyme regulates epidermal growth factor receptor signaling and vesicular trafficking Homo sapiens