AlphaFold predicted structure
LIPT2 · A6NK58
Mean pLDDT
93.1/ 100
Very high
231 residues
Confidence breakdown
- Very high(≥ 90)85%
- Confident(70–90)9%
- Low(50–70)4%
- Very low(< 50)2%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LIPT2
Chr 11q13.4lipoyl(octanoyl) transferase 2
- MANE:
- ENST00000310109.5
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Osteopetrosis with renal tubular acidosis
0.75cardiomyopathy
0.19early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
0.12cancer
0.09benign colon neoplasm
0.06Huntington disease
0.05glioblastoma
0.04neoplasm
0.04central nervous system cancer
0.04glioma
0.04
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial
Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein (octanoyl-ACP) onto the lipoyl domains of lipoate-dependent enzymes such as the protein H of the glycine cleavage system (GCSH) (PubMed:28757203). Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate (By similarity)