Primary Identifier | MGI:2386258 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 170720 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable CARD domain binding activity. Predicted to be involved in several processes, including positive regulation of NF-kappaB transcription factor activity; positive regulation of canonical NF-kappaB signal transduction; and tumor necrosis factor-mediated signaling pathway. Predicted to be located in aggresome and cytosol. Is expressed in gut; nose; and vibrissa. Used to study psoriasis 2. Human ortholog(s) of this gene implicated in pityriasis rubra pilaris and psoriasis 2. Orthologous to human CARD14 (caspase recruitment domain family member 14). PHENOTYPE: Homozygous null mice show resistance to IMQ-induced psoriasiform disease. Heterozygotes for a gain-of-function allele develop chronic psoriasis with scaly lesions, epidermal thickening, keratinocyte hyperproliferation, hyperkeratosis and skin inflammation while homozygotes die within days of birth. [provided by MGI curators] |