background:
LIPT2 is a 231 amino acid mitochondrial protein that belongs to the LipB family. LIPT2 catalyzes the exchange of octanoic acid from octanoyl-acyl-carrier-protein to lipoate-dependent enzymes. The gene encoding LIPT2 maps to human chromosome 11, which comprises approximately 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations, while Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11-encoded genes.
Function:
Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes. Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate.
Subcellular Location:
Mitochondrion.
Similarity:
Belongs to the lipB family.
Database links:
Entrez Gene: 387787 Human
Entrez Gene: 67164 Mouse
Entrez Gene: 365314 Rat
SwissProt: A6NK58 Human
SwissProt: Q9D009 Mouse
Unigene: 591971 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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