TMEM231
Chr 16ARtransmembrane protein 231
Also known as: ALYE870, JBTS20, MKS11, PRO1886
This gene encodes a transmembrane component of the tectonic-like complex that acts as a barrier preventing diffusion of transmembrane proteins between the cilia and plasma membranes, and is required for ciliogenesis and sonic hedgehog signaling. Mutations cause Joubert syndrome and Meckel syndrome, both severe ciliopathies affecting the brain, kidneys, liver, and other organ systems. The gene follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
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
TMEM231 · 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