Primary Identifier | MGI:1924983 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 77733 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase activity. Acts upstream of or within several processes, including adult walking behavior; protein K48-linked ubiquitination; and toll-like receptor 3 signaling pathway. Predicted to be active in endoplasmic reticulum membrane. Used to study hereditary ataxia. Human ortholog(s) of this gene implicated in autosomal dominant sensory ataxia 1 and hereditary spastic paraplegia 85. Orthologous to human RNF170 (ring finger protein 170). PHENOTYPE: Mice homozygous for a null allele develop progressive gait abnormalities that are more pronounced in dark conditions with age. [provided by MGI curators] |