THG1L
Chr 5ARtRNA-histidine guanylyltransferase 1 like
THG1L encodes a mitochondrial guanyltransferase that adds GMP to the 5' end of tRNA(His) for proper protein synthesis and functions as a guanyl-nucleotide exchange factor regulating mitochondrial fusion dynamics. Mutations cause spinocerebellar ataxia, autosomal recessive 28, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.03), suggesting that complete loss of function may be required for disease manifestation.
Limited evidence — not for standalone diagnostic reporting
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
THG1L · 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