| Primary Identifier | MGI:1336894 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 17434 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in molybdopterin cofactor biosynthetic process. Predicted to be located in nuclear speck. Predicted to be part of molybdopterin synthase complex. Predicted to be active in cytosol. Is expressed in several structures, including brain; genitourinary system; skin; spleen; and stomach. Used to study molybdenum cofactor deficiency type B. Human ortholog(s) of this gene implicated in molybdenum cofactor deficiency type B. Orthologous to human MOCS2 (molybdenum cofactor synthesis 2). PHENOTYPE: Nullizygous mice show inactivity of all molybdenum-dependent enzymes, slow weight gain, weakness, curly whiskers, hair growth and skin abnormalities, altered levels of purines, uric acid and S-sulfocysteine, bladder and kidney stone formation, increased neuronal apoptosis, and postnatal lethality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
