Primary Identifier | MGI:2447670 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 17237 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables ubiquitin protein ligase activity. Involved in negative regulation of smoothened signaling pathway. Acts upstream of or within protein polyubiquitination. Predicted to be located in endoplasmic reticulum. Predicted to be active in early endosome; nucleus; and plasma membrane. Is expressed in several structures, including genitourinary system; heart; node; and skin. Orthologous to human MGRN1 (mahogunin ring finger 1). PHENOTYPE: Homozygotes for mutant alleles exhibit darkening of agouti hair and suppression of the obesity associated with certain agouti mutations. Homozygotes for an induced null mutation also have curly whiskers and develop a progressive spongiform neuropathology. [provided by MGI curators] |