Aliases: HMCS, MCS, MOS
Chromosome No: 18
Chromosome Band: 18q12.2
Genetic Category: Rare single gene variant-Functional-Genetic association
ASD Reports: 7
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
MOCOS was found to be downregulated in nasal olfactory stem cells from 8 of 11 adults with ASD compared with this from 11 age- and gender-matched adult controls; these cells also showed elevated production of reactive oxygen species (Feron et al., 2015). In this same report it was demonstrated that MOCOS +/- iPSC-derived neurons displayed fewer synapsin-positive synaptic buttons. A de novo missense variant in this gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
Molecular Function
MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH; MIM 607633) and aldehyde oxidase (AOX1; MIM 602841), which is required for their enzymatic activities. Mutations in this gene are responsible for xanthinuria 2 (OMIM 603592).
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