B9D1
Chr 17ARB9 domain containing 1
Also known as: B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1
The protein is a component of the tectonic-like complex that localizes to the transition zone of primary cilia and functions as a barrier preventing diffusion of transmembrane proteins between cilia and plasma membranes, and is required for ciliogenesis and sonic hedgehog signaling. Mutations cause Meckel syndrome 9 and Joubert syndrome 27, both severe ciliopathies affecting multiple organ systems including the brain, kidneys, and liver. Inheritance is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
B9D1 · 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