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PCH3
Chr 7ARpiccolo presynaptic cytomatrix protein
Also known as: ACZ, PCH3
The protein encoded by this gene is part of the presynaptic cytoskeletal matrix that establishes active synaptic zones and regulates synaptic vesicle trafficking. Mutations cause pontocerebellar hypoplasia type 3, a severe neurodevelopmental disorder affecting the brainstem and cerebellum. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PCH3?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
PCH3 · 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 →No open access results found
External Resources
Links to major genomics databases and tools