TRAPPC4 Chromosome 11
Trafficking protein particle complex subunit 4
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What This Gene Does
Involved in autophagy and endoplasmic reticulum to Golgi vesicle-mediated transport. Part of TRAPP complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Trafficking protein particle complex subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000196655
Associated Conditions (5)
Neurodevelopmental disorder with epilepsy
spasticity
and brain atrophy
Neurodevelopmental disorder with progressive microcephaly
and brain anomalies
Key Variants
RS1943311987
Likely pathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Health Risk
RS1943450738
Likely pathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Health Risk
RS375776811
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1943311987 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy |
| RS1943450738 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy |
| RS375776811 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy |