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IDDMSSD
Chr 11ADp21 (RAC1) activated kinase 1
Also known as: IDDMSSD, PAKalpha, alpha-PAK, p65-PAK
This gene encodes a serine/threonine kinase (PAK protein) that links RhoGTPases to cytoskeleton reorganization and nuclear signaling, and regulates cell motility and morphology. Mutations cause intellectual developmental disorder with macrocephaly, seizures, and speech delay. The condition follows an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDDMSSD?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
IDDMSSD · 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