Primary Identifier | MGI:1889850 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 54722 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cardiolipin binding activity. Involved in cellular response to virus and pyroptotic inflammatory response. Acts upstream of or within inner ear auditory receptor cell differentiation. Located in cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 5 and sensorineural hearing loss. Orthologous to human GSDME (gasdermin E). PHENOTYPE: Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing. Mice homozygous for another knock-out allele exhibit normal hearing but protection from chemotherapy drug-induced tissue damage and weight loss. [provided by MGI curators] |