Primary Identifier | MGI:1913993 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 66743 |
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 and regulation of postsynaptic neurotransmitter receptor internalization. Acts upstream of or within nervous system development; positive regulation of DNA-binding transcription factor activity; and protein monoubiquitination. Located in cytoplasm. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including central nervous system; dorsal root ganglion; genitourinary system; retina; and tooth. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 23. Orthologous to human RNF220 (ring finger protein 220). PHENOTYPE: Homozygous knockout results in the reduction of the number of motor neurons and some types of spinal interneurons and the increase of other types of spinal interneurons in embryos. [provided by MGI curators] |