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SCA45
Chr 5ADFAT atypical cadherin 2
Also known as: CDHF8, CDHR9, HFAT2, MEGF1, SCA45
This protein is a cell adhesion molecule containing cadherin-type repeats that functions to control cell proliferation and plays an important role in cerebellum development. Mutations cause spinocerebellar ataxia 45, an autosomal dominant cerebellar disorder. The condition primarily affects the cerebellum, leading to progressive ataxia and coordination difficulties.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA45?content-type=application/json&expand=1
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCA45 · 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