GTPBP8
Chr 3GTP binding protein 8
Also known as: HSPC135, MRX8
GTPBP8 encodes a mitochondrial GTPase that binds GTP and metal ions. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in infancy. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal development.
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
GTPBP8 · 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