MOCS2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Molybdenum cofactor synthesis protein 2A and molybdenum cofactor synthesis protein 2B are a pair of proteins that in humans are encoded from the same MOCS2 gene.[5][6][7] These two proteins dimerize to form molybdopterin synthase.
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| Aliases | MOCS2, MCBPE, MOCO1, MOCODB, MPTS, molybdenum cofactor synthesis 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603708; MGI: 1336894; HomoloGene: 32193; GeneCards: MOCS2; OMA:MOCS2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
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.[7]
Gene
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.[7]
The MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A (the small subunit), and exons 3 to 7 encode MOCS2B (large subunit).[5]
Genetic disease
Defects in both copies of MOCS2 cause the molybdenum cofactor deficiency disease in babies.[8]
Protein structure
MOCS2A and MOCS2B subunits form dimers in solution. These dimers in turn dimerize to form the tetrameric molybdopterin synthase complex.[9]
