关键词: GSDMDC家族, DFNA5, 肿瘤, 耳聋, 脱发

Abstract: The GSDMDC family,a novel protein superfamily, includes five members (DFNA5, DFNA5L, GSDM, GSDML and MLZE), all of them containing a Gasdermin domain. Many studies indicated that the GSDMDC family had many important physiological functions in development, tumorigenesis and genetic disease with deafness and hair loss phenotype. Many studies have focused on the DFNA5 gene because it is one of the disease genes of autosomal dominant non-syndromic hearing　impairment and it is also associated with melanoma and breast cancer. But it is still unclear of the molecular mechanism of DFNA5 in the genetic disease and tumorigenesis. And there are also few studies on the spatial structure , interacting proteins and physiological functions of the GSDMDC domain. So there are a lot of works to do for shedding light on the physiological functions and the relevance on genetic disease of the other members of the GSDMDC family.