SPATA6
Chr 1spermatogenesis associated 6
Also known as: HASH, SRF-1, SRF1
The protein is required for formation of the sperm connecting piece during spermiogenesis and binds myosin light chains to facilitate motile cilium assembly. Mutations cause autosomal recessive primary ciliary dyskinesia with reduced generation of multiple motile cilia, presenting with respiratory symptoms, laterality defects, and male infertility. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with autosomal recessive inheritance where heterozygous carriers are unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
SPATA6 · 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