LIPT1

Chr 2q11.2

lipoyltransferase 1

Aliases:: MGC12290, MGC13378
MANE:: ENST00000651691.1

OMIM: 610284 ↗NCBI: 51601 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LIPT1 · Q9Y234

v62025-08-01

Predicted Aligned Error matrix for LIPT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.4/ 100

Very high

373 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)8%
Low(50–70)0%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

lipoyl transferase 1 deficiency
0.80
Leigh syndrome
0.38
hereditary disease
0.34
Abnormal optic nerve morphology
0.27
Abnormal cardiovascular system morphology
0.27
Hypotonia
0.27
Failure to thrive
0.27
Hearing impairment
0.27
cancer
0.09
melanoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lipoyl amidotransferase LIPT1, mitochondrial

Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2) (PubMed:29987032). Unable to catalyze the transfer of octanoyl from octanoyl-GCSH to PDCE2 (PubMed:29987032). In vitro, it is also able to catalyze the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes but this reaction may not be physiologically relevant (Probable)