SPMIP6
Chr 9sperm microtubule inner protein 6
Also known as: C9orf24, CBE1, NYD-SP22, SMRP1, bA573M23.4
The protein may participate in intramanchette transport and midpiece formation of the sperm tail and potentially functions in somatic cell proliferation. Mutations cause autosomal recessive primary ciliary dyskinesia with reduced generation of multiple motile cilia, leading to chronic respiratory infections, sinusitis, and potential fertility issues. This gene is highly constrained against loss-of-function variants, suggesting that biallelic mutations are required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPMIP6 · 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