Primary Identifier | MGI:1913331 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 106025 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-macromolecule adaptor activity. Involved in negative regulation of inflammatory response; positive regulation of canonical NF-kappaB signal transduction; and regulation of tumor necrosis factor-mediated signaling pathway. Acts upstream of or within apoptotic nuclear changes; keratinization; and mitochondrion organization. Part of LUBAC complex. Is expressed in several structures, including cochlear ganglion; genitourinary system; heart; inner ear epithelium; and lung. Used to study atopic dermatitis. Orthologous to human SHARPIN (SHANK associated RH domain interactor). PHENOTYPE: Mutations in this gene produces chronic skin lesions. [provided by MGI curators] |