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PEBAS
Chr 2ARtrafficking protein particle complex subunit 12
Also known as: CGI-87, PEBAS, TTC-15, TTC15
This protein functions in endoplasmic reticulum to Golgi vesicle transport and is part of the TRAPP complex, which regulates intracellular trafficking. Mutations cause progressive encephalopathy with early onset, characterized by brain atrophy and spasticity. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PEBAS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEBAS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools