| Primary Identifier | MGI:1891295 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 117146 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin protein ligase activity. Involved in regulation of postsynapse assembly. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study Kaufman oculocerebrofacial syndrome. Human ortholog(s) of this gene implicated in Kaufman oculocerebrofacial syndrome. Orthologous to human UBE3B (ubiquitin protein ligase E3B). PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [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
