鍩哄洜鍚嶏細

Lipt2

浜у搧鍒悕锛欬p style="text-indent: 2em;">2610209A20Rik锛 Lipt2锛 lipoyl(octanoyl) transferase 2 (putative)锛 lipoyl(octanoyl) transferase 2 (putative)锛 putative lipoyltransferase 2, mitochondrial锛 lipoate-protein ligase B锛 lipoyl/octanoyl transferase锛 octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase锛 putative octanoyltransferase, mitochondrial锛 纭緵閰拌繛鎺ラ叾2锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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.