LIPT1
Chr 2ARlipoyltransferase 1
The protein transfers lipoyl moieties to apoproteins in the second step of lipoic acid attachment to mitochondrial proteins. Mutations cause lipoyltransferase 1 deficiency, which is inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired lipoylation of mitochondrial enzyme complexes that require lipoic acid as a cofactor for proper function.
Moderate evidence — consider for supplementary testing
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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LIPT1 · 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