Entity Details

Primary name LIPT1
Entity type gene
Source Source Link

Details

PrimaryID51601
RefseqGeneNG_050665
SymbolLIPT1
Namelipoyltransferase 1
Chromosome2
Location2q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLIPT_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006464 cellular protein modification process
GO:0006629 lipid metabolic process
GO:0009249 protein lipoylation
GO:0017118 lipoyltransferase activity
GO:0019752 carboxylic acid metabolic process

Diseases

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Disease IDSourceNameDescription
616299 OMIMLipoyltransferase 1 deficiency (LIPT1D)A disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. The disease is caused by variants affecting the gene represented in this entry.