LIPT2

Chr 11

lipoyl(octanoyl) transferase 2

NCBI Gene: 387787 ENSG00000175536 UniProt: A6NK58

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.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEncephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.94

LOEUF

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Mechanism

Some data sources returned errors (1)

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