UBALD1
Chr 16UBA like domain containing 1
Also known as: FAM100A, PP11303
The protein functions as an enzyme involved in ubiquinone (coenzyme Q10) biosynthesis in mitochondria. Mutations cause autosomal recessive multiple mitochondrial dysfunctions syndrome with neurological deterioration, developmental delays, and multi-organ involvement. The gene shows high constraint against loss-of-function variants, reflecting its essential role in mitochondrial energy metabolism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBALD1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools