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SCA49
Chr 7ADsterile alpha motif domain containing 9 like
Also known as: ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49
This gene encodes a cytoplasmic tumor suppressor protein that regulates cell proliferation and mediates innate immune responses to viral infection. Mutations cause spinocerebellar ataxia 49, which follows autosomal dominant inheritance. The protein contains an N-terminal sterile alpha motif domain and mutations have also been associated with various myeloid disorders and ataxia-pancytopenia syndrome.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA49?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
SCA49 · 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