| Primary Identifier | MGI:2384966 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 217664 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. Acts upstream of or within protein N-linked glycosylation via asparagine. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi membrane. Is expressed in several structures, including alimentary system; cranium; integumental system; sensory organ; and telencephalon. Used to study congenital disorder of glycosylation type IIa. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIa. Orthologous to human MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase). PHENOTYPE: Homozygous null mice recapitulate aspects of the phenotype exhibited by patients with congenital disorders of glycosylation (CDG), particularly type IIa. Most null mice died either embyronically or postnataly and exhibited muscular, gastrointestinal, hematologic, and osteogenic defects. [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
