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 7.1.0) Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase binding activity. Acts upstream of or within blastocyst hatching; maternal process involved in female pregnancy; and protein ubiquitination. Located in XY body. Part of 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] |