O75390

Citrate synthase (CS) is a 466 amino acid mitochondrial matrix protein that functions as the first and rate-limiting enzyme of the tricarboxylic acid cycle. Essential in mitochondrial respiration and involved in the conversion of glucose to lipid, citrate synthase is found the great majority of cells that are capable of oxidative metabolism. The gene encoding citrate synthase maps to human chromosome 12q13.3, which is transcribed into two alternatively spliced variants designated CSa and CSb. Human chromosome 12 encodes over 1,100 genes, comprises approximately 4.5% of the human genome and is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.