TRAPPC2L Chromosome 16
Trafficking protein particle complex subunit 2L
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What This Gene Does
This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Trafficking protein particle complex subunits
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000167515
Associated Conditions (6)
Encephalopathy
progressive
early-onset
with episodic rhabdomyolysis
Intellectual disability
Colon adenocarcinoma
Key Variants
RS751046231
Conflicting classifications of pathogenicity
Encephalopathy, progressive, early-onset
Health Risk
RS2543679001
Likely pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS766956834
Likely pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS1597453026
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS1597455532
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
RS766510287
Pathogenic
Encephalopathy, progressive, early-onset
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751046231 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, progressive, early-onset |
| RS2543679001 | Health Risk | Likely pathogenic | Encephalopathy, progressive, early-onset |
| RS766956834 | Health Risk | Likely pathogenic | Encephalopathy, progressive, early-onset |
| RS1597453026 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS1597455532 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |
| RS766510287 | Health Risk | Pathogenic | Encephalopathy, progressive, early-onset |