Primary Identifier | MGI:1916560 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 69310 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables ubiquitin protein ligase binding activity. Acts upstream of or within protein localization and spermatid development. Located in several cellular components, including cell body; manchette; and sperm midpiece. Is active in axonemal B tubule inner sheath. Is expressed in several structures, including brain; neural ectoderm; otocyst; pancreas trunk epithelium; and spinal cord ventricular layer. Orthologous to human PACRG (parkin coregulated). PHENOTYPE: Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, tonic-clonic seizures, and reduced male fertility. [provided by MGI curators] |