LIPT2

Chr 11AR

lipoyl(octanoyl) transferase 2

NCBI Gene: 387787ENSG00000175536UniProt: A6NK58OMIM: 617659

The protein catalyzes the transfer of octanoic acid to lipoate-dependent enzymes in mitochondria, which is essential for proper mitochondrial metabolism. Autosomal recessive mutations cause neonatal severe encephalopathy with lactic acidosis and brain abnormalities due to impaired mitochondrial function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.941 OMIM phenotype
Clinical Summary— LIPT2
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.63) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.94LOEUF
pLI 0.626
Z-score 1.64
OE 0.00 (0.00–0.94)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
-0.12Z-score
OE missense 1.04 (0.87–1.24)
85 obs / 81.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–0.94)
0≤0.351.4
Missense OE1.04 (0.87–1.24)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 0 / 3.1Missense obs/exp: 85 / 81.9Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LIPT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
NEDD4L induces mitochondrial dysfunction and neurodegeneration by promoting LIPT2 degradation in Huntington's disease.
Fan P et al.·Proc Natl Acad Sci U S A
2025Open Access
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.
Sen K et al.·Pediatr Neurol
2025
Thorough examination of the potential biological implications of the cuproptosis-related gene LIPT2 in the prognosis and immunotherapy in pan-cancer.
Luo M et al.·Am J Transl Res
2024
Comprehensive analysis of the potential biological significance of cuproptosis-related gene LIPT2 in pan-cancer prognosis and immunotherapy.
Wang W et al.·Sci Rep
2023Open Access
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F et al.·Am J Hum Genet
2017
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients