| Primary Identifier | MGI:1914824 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 67574 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity. Acts upstream of or within negative regulation of TORC1 signaling and regulation of synaptic plasticity. Located in cytoplasm. Is expressed in several structures, including forelimb bud; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 36. Orthologous to human ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit). PHENOTYPE: Males hemizygous for a null allele exhibit environmentally induced seizures and increased susceptibility to pharmacologically induced seizures. Homozygous females for a different null allele show increased body fat and decrased lean body mass, decreased bone mineral density, decreased granulocyte numbers and increased leukocyte numbers. [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
