TRANK1
Chr 3tetratricopeptide repeat and ankyrin repeat containing 1
Also known as: LBA1
The protein functions as a transcriptional regulator that controls gene expression in neural development and synaptic function. Mutations cause neurodevelopmental disorders with intellectual disability, autism spectrum disorder, and psychiatric features including bipolar disorder and schizophrenia, inherited in an autosomal dominant pattern. The gene shows moderate constraint against loss-of-function variants, and affected individuals typically present with early-onset developmental delays and behavioral abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRANK1 · 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