Primary Identifier | MGI:1346341 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 24017 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase activity. Involved in protein autoubiquitination. Located in late endosome membrane and lysosomal membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and integumental system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 73. Orthologous to human RNF13 (ring finger protein 13). PHENOTYPE: Homozygous null mice show spatial learning and working memory defects, alterations in synaptic structure with lower synaptic vesicle density and an increase in the area of the active zone in hippocampal synapses. [provided by MGI curators] |