TBC1D7
Chr 6ARTBC1 domain family member 7
Also known as: MGCPH, PIG51, TBC7
This protein functions as a non-catalytic component of the TSC-TBC complex that acts as a GTPase-activating protein for RHEB, thereby negatively regulating mTORC1 signaling in response to nutrient availability. Mutations cause autosomal recessive macrocephaly/megalencephaly syndrome. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBC1D7 · 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