Entity Details

Primary name LIPT2
Entity type gene
Source Source Link

Details

PrimaryID387787
RefseqGeneNG_051333
SymbolLIPT2
Namelipoyl(octanoyl) transferase 2
Chromosome11
Location11q13.4
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLIPT2_HUMAN

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009249 protein lipoylation
GO:0016874 ligase activity
GO:0019752 carboxylic acid metabolic process
GO:0033819 lipoyl(octanoyl) transferase activity
GO:0102555 octanoyl transferase activity (acting on glycine-cleavage complex H protein)
GO:2000376 positive regulation of oxygen metabolic process

Diseases

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Disease IDSourceNameDescription
617668 OMIMEncephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA)An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
LIPT2BCAR1BioGRID33001583 details