LIPT2: Lipoyl(Octanoyl) Transferase 2
Essential for lipoic acid biosynthesis and mitochondrial metabolism
Gene Information Card
| Symbol | LIPT2 |
|---|---|
| Full Name | Lipoyl(Octanoyl) Transferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 387787 ncbi.nlm.nih.gov/gene/387787 |
| Ensembl ID | ENSG00000166167 |
| UniProt ID | Q9Y234 |
| OMIM ID | 617659 |
| HGNC ID | 37284 |
| Aliases | MGC13170, lipoyltransferase 2 |
Description
LIPT2 (lipoyl(octanoyl) transferase 2) encodes a mitochondrial enzyme that transfers the octanoyl moiety from octanoyl-acyl carrier protein to the lipoyl domains of the pyruvate dehydrogenase complex, alpha-ketoglutarate dehydrogenase complex, and branched-chain alpha-keto acid dehydrogenase complex. This lipoylation is essential for the activity of these key metabolic complexes. Mutations in LIPT2 cause a severe neurological disorder with lipoylation defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| LIPT2 deficiency (lipoyltransferase 2 deficiency) | Loss-of-function mutations impair lipoylation of mitochondrial dehydrogenase complexes, leading to metabolic failure and neurodegeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Heart | 8.5 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.8 | Medium |
| Skeletal muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.3 | Hepatocellular carcinoma |
| K-562 | 4.7 | Leukemia |
| HeLa | 6.8 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function, premature truncation |
| c.200T>C (p.Leu67Pro) | Missense | Rare | Loss of function, impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Reported nonsense and missense mutations lead to loss of lipoyltransferase activity, causing LIPT2 deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • lipoyltransferase activity (GO:0033819) | • mitochondrion (GO:0005739) |
| • lipoate biosynthetic process (GO:0009107) | • protein lipoylation (GO:0009249) |
Pathways
• Lipoic acid metabolism (Reactome: R-HSA-6798695)
• Pyruvate metabolism and Citric Acid (TCA) cycle
Protein Summary
LIPT2 is a mitochondrial enzyme that catalyzes the transfer of octanoic acid from octanoyl-acyl carrier protein to the lipoyl domains of the pyruvate dehydrogenase complex, alpha-ketoglutarate dehydrogenase complex, and branched-chain alpha-keto acid dehydrogenase complex. This lipoylation is essential for the catalytic activity of these complexes, which are central to energy metabolism. Defects in LIPT2 cause a severe autosomal recessive disorder characterized by developmental delay, hypotonia, and metabolic acidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPT2 Knockout HEK293 Cell Line | EDJ-KQ14087 | Human | 387787 | Details Get a Quote |
| LIPT2 Knockout A-549 Cell Line | EDJ-KQ44002 | Human | 387787 | Details Get a Quote |
| LIPT2 Knockout HeLa Cell Line | EDJ-KQ44003 | Human | 387787 | Details Get a Quote |
| LIPT2 Knockout HCT 116 Cell Line | EDJ-KQ76832 | Human | 387787 | Details Get a Quote |
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