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IDDSSAD
Chr 7ADactin like 6B
Also known as: ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha
The protein is an actin-related protein that functions as a subunit of the BAF chromatin remodeling complex, which regulates gene expression by modifying chromatin structure, particularly in the brain. Mutations cause intellectual developmental disorder with severe speech and ambulation defects, inherited in an autosomal dominant pattern. This condition primarily affects neurological development with significant impairment in communication and motor function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDDSSAD?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
IDDSSAD · 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