MOCS2

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin and the catalytically active metal molybdenum. MoCo is synthesized from cyclic pyranopterin monophosphate (precursor Z) by the heterodimeric enzyme molybdopterin synthase.

The large and small subunits of molybdopterin synthase are both encoded from the MOCS2 gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits.

The MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A (the small subunit), and exons 3 to 7 encode MOCS2B (large subunit).

Defects in both copies of MOCS2 cause the molybdenum cofactor deficiency disease in babies.{{cite journal |vauthors=Ichida K, Aydin HI, Hosoyamada M, etal |title=A Turkish case with molybdenum cofactor deficiency |journal=Nucleosides, Nucleotides & Nucleic Acids |volume=25 |issue=9–11 |pages=1087–91 |year=2006 |pmid=17065069 |doi=10.1080/15257770600894022|s2cid=40601679 }}

MOCS2A and MOCS2B subunits form dimers in solution. These dimers in turn dimerize to form the tetrameric molybdopterin synthase complex.{{cite journal |vauthors=Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV, Mendel RR |title=Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency |journal=The Journal of Biological Chemistry |volume=278 |issue=28 |pages=26127–34 |date=July 2003 |pmid=12732628 |doi=10.1074/jbc.M303092200|doi-access=free }}

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{{Metabolism of vitamins, coenzymes, and cofactors}}

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