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CDCBM12
Chr 9ARcalmodulin regulated spectrin associated protein 1
Also known as: CDCBM12
CDCBM12 encodes a protein that binds to microtubule minus-ends and spectrin, regulating microtubule polymerization and neuron projection development. Biallelic mutations cause complex cortical dysplasia with other brain malformations, a severe neurodevelopmental disorder affecting cortical formation and additional brain structures. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CDCBM12?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
CDCBM12 · 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 publications found for CDCBM12
External Resources
Links to major genomics databases and tools