MOCS1 : molybdenum cofactor synthesis 1

Description

MOCS1, short for molybdenum cofactor sulfurase 1, is a crucial enzyme in the biosynthesis of the molybdenum cofactor (MoCo). MoCo is an essential prosthetic group for a diverse range of enzymes involved in vital metabolic processes such as sulfur and nitrogen metabolism. MOCS1 catalyzes the sulfur insertion step in MoCo biosynthesis, converting molybdopterin to the active form, the molybdenum cofactor. This enzyme works in tandem with MOCS2, another sulfurase, to ensure the proper functioning of MoCo-dependent enzymes.

Associated Diseases

• Molybdenum Cofactor Deficiency (MCD): This rare genetic disorder arises from mutations in MOCS1 or other genes involved in MoCo biosynthesis. MCD leads to severe neurological dysfunction and developmental delays, often proving fatal in early childhood.
• Sulfite Oxidase Deficiency (SOD): SOD is another disorder related to MoCo biosynthesis. Mutations in MOCS1 can contribute to SOD, resulting in accumulation of sulfite, leading to neurological and developmental problems.

Did you know?

MOCS1 is a highly conserved protein, found in all living organisms from bacteria to humans, highlighting the fundamental role of MoCo in metabolism.