Primary Identifier | MGI:1927086 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 63958 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity; enzyme binding activity; and ubiquitin-ubiquitin ligase activity. Acts upstream of or within several processes, including protein ubiquitination; ubiquitin-dependent protein catabolic process; and ventricular trabecula myocardium morphogenesis. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human UBE4B (ubiquitination factor E4B). PHENOTYPE: Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities. mice homozygous for a conditional allele activated in neurons exhibit reduced NPC proliferation, reduced weight, abnormal dendrite arborization, seizures, and postnatal lethality. [provided by MGI curators] |