Exocyst complex component 8
Function
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
Involvement in disease
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.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the EXO84 family.
Cellular localization
- Cytoplasm
- Cytoplasm
- Perinuclear region
- Cell projection
- 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).
Alternative names
Exocyst complex component 8, Exocyst complex 84 kDa subunit, EXOC8