EXOC7 Chromosome 17
Exocyst complex component 7
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What This Gene Does
The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"Exocyst complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000182473
Associated Conditions (1)
Neurodevelopmental disorder with seizures and brain atrophy
Key Variants
RS1310629937
Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
Health Risk
RS2067339335
Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
Health Risk
RS759489151
Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
Health Risk
RS762553587
Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1310629937 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy |
| RS2067339335 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy |
| RS759489151 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy |
| RS762553587 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy |