LIPT2
entrez
387787
canonical
uniprot
A6NK58
canonical
ensembl
ENSG00000175536
resolver
ensp
ENSP00000309463
resolver
enst
ENST00000310109
resolver
genesymbol
LIPT2
resolver
hgnc
HGNC:37216
resolver
uniprot_entry
LIPT2_HUMAN
resolver
amino_acid_sequence
MRQPAVRLVRLGRVPYAELLGLQDRWLRRLQAEPGIEAPSGTEAGALLLCEPAGPVYTAGLRGGLTPEETARLRALGAEVRVTGRGGLATFHGPGQLLCHPVLDLRRLGLRLRMHVASLEACAVRLCELQGLQDARARPPPYTGVWLDDRKICAIGVRCGRHITSHGLALNCSTDLTWFEHIVPCGLVGTGVTSLSKELQRHVTVEEVMPPFLVAFKEIYKCTLISEDSPN
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (NELABA) [MIM:617668]: 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. {ECO:0000269|PubMed:28757203}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.181
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q9D009, ECO:0000269|PubMed:28757203}.
uniprot
proteins
mass_dalton
25195
uniprot
proteins
mutagenesis
MUTAGEN 1..31; /note="Missing: Mislocalization to the cytosol; induces apoptotic cell death."; /evidence="ECO:0000269|PubMed:28628643
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein lipoylation via endogenous pathway; protein N(6)-(lipoyl)lysine from octanoyl-[acyl-carrier-protein]: step 1/2.
uniprot
proteins
protein_family
LipB family
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
28628643
uniprot
proteins
pubmed
28757203
uniprot
proteins
sequence_length
231
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28628643, ECO:0000269|PubMed:28757203}.
uniprot
proteins