Primary Identifier | MGI:1928904 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 56738 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTP 3',8'-cyclase activity; S-adenosyl-L-methionine binding activity; and cyclic pyranopterin monophosphate synthase activity. Involved in molybdopterin cofactor biosynthetic process. Predicted to be located in cytosol. Used to study molybdenum cofactor deficiency type A. Human ortholog(s) of this gene implicated in molybdenum cofactor deficiency type A. Orthologous to human MOCS1 (molybdenum cofactor synthesis 1). PHENOTYPE: Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11. [provided by MGI curators] |