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SCA27B
Chr 13ADfibroblast growth factor 14
Also known as: FGF-14, FHF-4, FHF4, NYS4, SCA27, SCA27A, SCA27B
The protein is a member of the fibroblast growth factor (FGF) family with mitogenic and cell survival activities involved in embryonic development, cell growth, morphogenesis, and tissue repair. Mutations cause spinocerebellar ataxia 27B, a late-onset cerebellar ataxia inherited in an autosomal dominant pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA27B?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
SCA27B · 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
A Randomized, Parallel-arm, Double Blind, Placebo-controlled Study to Assess the Efficacy of Fampridine for Patients With Spinocerebellar Ataxia SCA27B Caused by a GAA Expansion in the FGF14 Gene
RECRUITINGThe Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias
RECRUITINGExternal Resources
Links to major genomics databases and tools