GSDME

(approved gene symbol) [gasdermin E] The gene, which encodes one of the gasdermins, encoding this protein has been identified as DFNA5 [deafness autosomal dominant 5] (also referred to as Non-syndromic hearing impairment protein 5). The DFNA5 gene is expressed in the cochlea and has been identified by positional cloning strategy in the critical region defined for autosomal dominant nonsyndromic deafness-5 by Van Laer et al (1998) who also identified a mutation in intron 7 of the DFNA5 gene cosegregating with nonsyndromic deafness. Various other mutations have been found to be associated with nonsyndromic deafness (Yu et al, 2003; Bischoff et al, 2004; Cheng J et al, 2007; Park et al, 2010). All these mutations lead to ... ... ... ...
 
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Entry last modified: October 2017