KIF7
Chr 15ARkinesin family member 7
Also known as: ACLS, AGBK, HLS2, JBTS12, MMEDF, UNQ340
This gene encodes a kinesin family protein that regulates sonic hedgehog signaling by controlling GLI transcription factors at the primary cilium, acting as both a negative regulator to prevent inappropriate GLI2 activation and a positive regulator to prevent GLI3 processing into its repressor form. Mutations cause autosomal recessive ciliopathies including Joubert syndrome 12, acrocallosal syndrome, and potentially hydrolethalus syndrome 2 and Al-Gazali-Bakalinova syndrome. The pathogenic mechanism is predicted to involve gain-of-function effects that disrupt normal hedgehog pathway regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIF7 · 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
External Resources
Links to major genomics databases and tools