EXOC7

EXOC7 is a component of the exocyst, which is an evolutionarily conserved octameric protein complex essential for exocytosis. The exocyst targets secretory vesicles at specific domains of the plasma membrane for cell surface expansion and protein secretion (Zuo et al., 2006 [PubMed 17086175]).[supplied by OMIM

Full Name

exocyst complex component 7

Research Area

Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity).

It is required for neuron survival and plays an essential role in cortical development (By similarity).

Biological Process

Exocytosis Source: GO_Central
Protein transport Source: UniProtKB-KW
Regulation of entry of bacterium into host cell Source: AgBase
Regulation of macroautophagy Source: ParkinsonsUK-UCL

Cellular Location

Cytosol; Cell membrane; Midbody ring. Translocates, as a preformed complex with EXOC3/SEC6 and EXOC4/SEC8, to the plasma membrane in response to insulin through the activation of ARHQ (By similarity). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214).

Involvement in disease

Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA):
An autosomal recessive disorder characterized by brain atrophy, seizures, and developmental delay. Disease severity is variable. Severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy.