Primary Identifier | MGI:1921506 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 74256 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables K48-linked deubiquitinase activity; K63-linked deubiquitinase activity; and cysteine-type deubiquitinase activity. Involved in several processes, including protein deubiquitination; regulation of necroptotic process; and regulation of signal transduction. Acts upstream of or within several processes, including positive regulation of T cell receptor signaling pathway; regulation of lymphocyte differentiation; and ripoptosome assembly involved in necroptotic process. Located in ciliary basal body and ciliary tip. Is expressed in several structures, including alimentary system; brain; lower urinary tract; nose; and skin. Human ortholog(s) of this gene implicated in Brooke-Spiegler syndrome. Orthologous to human CYLD (CYLD lysine 63 deubiquitinase). PHENOTYPE: Various knockout models with different exon deletions have been created. Observed phenotypes include altered T cell and B cell development, susceptibility to induced skin tumors, resistance to lethal lung infection, high colon tumor incidence, kinky tails, and neonatal death due to lung dysfunction. [provided by MGI curators] |