Primary Identifier | MGI:3044668 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 450219 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cardiolipin binding activity and wide pore channel activity. Involved in several processes, including hair follicle development; positive regulation of interleukin-1 beta production; and pyroptosis. Acts upstream of or within several processes, including hair follicle morphogenesis; negative regulation of timing of anagen; and regulation of signal transduction. Located in several cellular components, including cytosol; mitochondrion; and nucleus. Is active in membrane. Is expressed in foregut; hair root sheath; and hair shaft. Orthologous to human GSDMA (gasdermin A). PHENOTYPE: Mutations of this gene affect normal development of the hair follicle, resulting in abnormal coats. Some alleles are associated with corneal opacity and/or microphthalmia. For one allele, high rates of mutation are observed in the MHC that appear to be associated with intra-MHC recombination. [provided by MGI curators] |