KIF26A
Chr 14ARkinesin family member 26A
Also known as: CDCBM11
KIF26A encodes an atypical kinesin that binds microtubules and regulates cerebral cortical development by controlling neurite growth and radial migration of cortical excitatory neurons. Biallelic mutations cause autosomal recessive complex cortical dysplasia with other brain malformations, affecting brain development and structure. The gene is highly constrained against loss-of-function variants (LOEUF 0.47), indicating strong evolutionary pressure to maintain protein function.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIF26A · 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