Primary Identifier | MGI:1926790 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 56371 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable anaphase-promoting complex binding activity; ubiquitin ligase activator activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in negative regulation of cellular senescence and positive regulation of cell population proliferation. Acts upstream of or within lens fiber cell differentiation; proteolysis involved in protein catabolic process; and regulation of meiotic nuclear division. Predicted to be located in nuclear membrane and nucleoplasm. Predicted to be part of anaphase-promoting complex. Is expressed in several structures, including central nervous system; early conceptus; oocyte; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 109. Orthologous to human FZR1 (fizzy and cell division cycle 20 related 1). PHENOTYPE: Homozygous null mutants die embryonically at around E9.5-E12.5 with poorly developed placentae, no placental giant cells and/or erythroblast deficiency. Homozygous MEFs undergo premature senescence. Heterozygotes exhibit learning/memory defects and/or elevatedspontaneous epithelial tumor incidence. [provided by MGI curators] |