T27A3.6 is orthologous to the human gene Molybdenum cofactor synthesis gene 2 (MOCS2), which encodes molybdenum cofactor synthesis protein 2A and molybdenum cofactor synthesis protein 2B, which dimerize to form molybdopterin synthase.
Predicted to enable molybdopterin synthase activity. Predicted to be involved in Mo-molybdopterin cofactor biosynthetic process. Predicted to be located in cytosol. Predicted to be part of molybdopterin synthase complex. Human ortholog(s) of this gene implicated in molybdenum cofactor deficiency type B. Is an ortholog of human MOCS2 (molybdenum cofactor synthesis 2).
Inferred by orthology to human genes with DO annotation (HGNC:7193)
Disease_relevance
Mutations in the human gene Molybdenum cofactor synthesis gene 2 (MOCS2; orthologous to elegans T27A3.6), are associated with Molybdenum cofactor deficiency, type B, which is an autosomal recessive disease where there is a loss of all molybdoenzyme activities, characterized by neurological damage, seizures and early childhood death.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.