EXOC8

This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane.

Exocyst Complex Component 8

Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

Cellular protein localization Source: Ensembl
Endosome organization Source: UniProtKB
Exocytosis Source: MGI
Extracellular matrix disassembly Source: UniProtKB
Golgi to plasma membrane transport Source: GO_Central
Protein localization Source: GO_Central
Protein transport Source: UniProtKB-KW
Regulation of macroautophagy Source: ParkinsonsUK-UCL

Cytoplasm; Perinuclear region; Growth cone; Cell projection. Perinuclear in undifferentiated PC12 cells. Redistributes to growing neurites and growth cones during neuronal differentiation (By similarity). Binds lipids with phosphatidylinositol 3,4,5-trisphosphate groups (By similarity). Localizes at the leading edge of migrating cells (By similarity).

Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB): An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life. Death in childhood may occur.