| Primary Identifier | MGI:3577015 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 432940 |
| 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 several processes, including negative regulation of NF-kappaB transcription factor activity; protein linear deubiquitination; and regulation of signal transduction. Located in cytoplasm. Part of LUBAC complex. Is expressed in several structures, including branchial arch; cardiovascular system; genitourinary system; gut; and hemolymphoid system. Human ortholog(s) of this gene implicated in otulipenia and primary immunodeficiency disease. Orthologous to human OTULIN (OTU deubiquitinase with linear linkage specificity). PHENOTYPE: Embryos homozygous for an ENU-induced mutation exhibit micrognathia, microcephaly, paucity of blood, and abnormal facial and vestibulocochlear nerve morphology. Keratinocyte-specific KO leads to delineated inflamed skin lesions (dermatitis) on back and tail. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
