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CAVIPMR
Chr 1ER membrane protein complex subunit 1
Also known as: CAVIPMR, KIAA0090
The protein is a subunit of the endoplasmic reticulum membrane protein complex (EMC), which facilitates membrane protein insertion and folding. Autosomal recessive mutations cause cerebellar atrophy, visual impairment, and psychomotor retardation. This condition affects the central nervous system and visual system, presenting with developmental delays and progressive cerebellar degeneration.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CAVIPMR?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAVIPMR · 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