microcephaly caused by homozygous mutation of familial EXOC8 gene

The first EXOC8 (exocyst complex component 8 Gene) related microcephaly case with comprehensive longitudinal neurodevelopmental documentation in China.EXOC8 is an important gene in the human body, and the protein it encodes is part of the exocyst complex.Fully assembled exocyst complexes attach to vesicles and regulate exocytosis by targeting and transporting intracellular vesicles or vesicles (posterior Golgi vesicles) to the plasma membrane or basement membrane.The structural integrity of the exocyst complex is the basis of its targeted transport and fixation.In mammalian cells, the exocyst complex consists of eight subunits encoded by the EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7, EXOC8 genes .This complex is known to play a role in exocytosis, cell growth and migration, cell division, primary ciliogenesis, and tumorigenesis.