Primary Identifier | MGI:1934029 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 84092 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type deubiquitinase activity. Involved in endosome organization and protein deubiquitination. Acts upstream of or within Ras protein signal transduction. Located in cytoplasmic vesicle membrane; cytosol; and midbody. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in ACTH-secreting pituitary adenoma. Orthologous to human USP8 (ubiquitin specific peptidase 8). PHENOTYPE: Embryos homozygous for a knock-out allele appear severely growth retarded and disorganized at E9.5 and die in utero due to ventral-folding defects. [provided by MGI curators] |