Molybdenum cofactor synthesis protein 2A andmolybdenum cofactor synthesis protein 2B are a pair ofproteins that in humans are encoded from the sameMOCS2gene.[5][6][7] These two proteins dimerize to formmolybdopterin 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 abicistronictranscript. They are now thought to be encoded frommonocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits.[7]
The MOCS2 gene contains 7exons. Exons 1 to 3 encode MOCS2A (the small subunit), and exons 3 to 7 encode MOCS2B (large subunit).[5]
^Ichida K, Aydin HI, Hosoyamada M, et al. (2006). "A Turkish case with molybdenum cofactor deficiency".Nucleosides, Nucleotides & Nucleic Acids.25 (9–11):1087–91.doi:10.1080/15257770600894022.PMID17065069.S2CID40601679.
Krawczak M, Reiss J, Cooper DN (1992). "The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences".Human Genetics.90 (1–2):41–54.doi:10.1007/bf00210743.PMID1427786.S2CID12544333.
Reiss J, Cohen N, Dorche C, et al. (September 1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency".Nature Genetics.20 (1):51–3.doi:10.1038/1706.PMID9731530.S2CID23833158.
Leimkühler S, Charcosset M, Latour P, et al. (October 2005). "Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase".Human Genetics.117 (6):565–70.doi:10.1007/s00439-005-1341-9.PMID16021469.S2CID1267356.
Hahnewald R, Leimkühler S, Vilaseca A, Acquaviva-Bourdain C, Lenz U, Reiss J (November 2006). "A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase".Molecular Genetics and Metabolism.89 (3):210–3.doi:10.1016/j.ymgme.2006.04.008.PMID16737835.
Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization".Nature Biotechnology.24 (10):1285–92.doi:10.1038/nbt1240.PMID16964243.S2CID14294292.
