KATNAL1
Chr 13katanin catalytic subunit A1 like 1
The protein is an ATP-dependent microtubule-severing enzyme that regulates microtubule dynamics, particularly in Sertoli cells where it is essential for spermiogenesis and male fertility. Mutations cause autosomal recessive male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF), resulting in asthenozoospermia and oligozoospermia. The gene is highly constrained against loss-of-function variants, indicating its critical cellular role.
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
KATNAL1 · 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