CFAP52
Chr 17ARcilia and flagella associated protein 52
Also known as: HTX10, WDR16, WDRPUH
The protein is a microtubule inner protein that is part of dynein-decorated doublet microtubules in cilia axoneme and is important for proper ciliary and flagellar beating. Mutations cause autosomal recessive heterotaxy with visceral organ malposition and male infertility due to defective sperm flagellar function. This gene shows low constraint against loss-of-function variants (LOEUF 1.242), affecting both embryonic left-right patterning through motile cilia dysfunction and reproductive function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CFAP52 · 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