Primary Identifier | MGI:102959 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 22209 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase binding activity. Involved in positive regulation of mitophagy. Acts upstream of or within blastocyst hatching; maternal process involved in female pregnancy; and protein ubiquitination. Located in XY body and chromatin. Is expressed in several structures, including alimentary system; brain; female reproductive system; integumental system; and respiratory system. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Nascimento type. Orthologous to human UBE2A (ubiquitin conjugating enzyme E2 A). PHENOTYPE: Homozygous mutation of this gene results in decreased body weight. Females are infertile while males show partial prenatal lethality. [provided by MGI curators] |