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KIAA0754
Chr 1KIAA0754
This gene encodes an F-actin-binding protein that cross-links actin to other cytoskeletal proteins, binds microtubules, regulates focal adhesion dynamics, and plays essential roles in neurite outgrowth and spine formation during brain development. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delays. The protein's critical functions in cytoskeletal organization and neuronal development explain the severe neurodevelopmental phenotype observed in affected individuals.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KIAA0754?content-type=application/json&expand=1
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIAA0754 · 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