MSMO1

MSMO1 (Methylsterol Monooxygenase 1) is a protein that in humans is encoded by the MSMO1 gene. This protein is involved in the cholesterol biosynthesis pathway and plays a crucial role in the conversion of lanosterol into cholesterol.

Function

The MSMO1 protein is a member of the sterol-C4-methyl oxidase family and is involved in the biosynthesis of sterols. It catalyzes the removal of C-4 methyl groups from lanosterol, a crucial step in the biosynthesis of cholesterol. This process is essential for the proper functioning of the body, as cholesterol is a vital component of cell membranes and is also the precursor for the synthesis of steroid hormones, bile acids, and vitamin D.

Clinical significance

Mutations in the MSMO1 gene have been associated with microcephaly, congenital cataracts, and psoriasiform dermatitis. This condition, known as SC4MOL deficiency, is a rare inborn error of metabolism that affects the body's ability to produce cholesterol. Patients with this condition often present with developmental delay, failure to thrive, and various skin abnormalities.

See also

• Sterol
• Cholesterol
• Lanosterol
• Microcephaly
• Congenital cataracts
• Psoriasiform dermatitis

References

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