| Primary Identifier | MGI:1859214 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 54128 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphomannomutase activity. Involved in GDP-mannose biosynthetic process from glucose and GDP-mannose biosynthetic process from mannose. Located in cytoplasm and neuronal cell body. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; liver; nose; and respiratory system. Used to study congenital disorder of glycosylation type I. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia. Orthologous to human PMM2 (phosphomannomutase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired. [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
