exocyst complex component 7
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomalneurodevelopmental disorder with seizures and brain atrophy
neurodegenerative disease
hereditary disease
microcephaly
Brain atrophy
Global developmental delay
Seizure
complex neurodevelopmental disorder
neoplasm
breast cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Exocyst complex component 7
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)
EXOC7 · Q9UPT5
Mean pLDDT
82.6/ 100
Confident
735 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
