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PER2, a mammalian homologue of the Drosophila period gene, shares a 40% homology with PER1 including the protein dimerization PAS domain. PER2 is a circadian regulator that may act as a transcription factor. It behaves as a negative element in circadian transcriptional loop. PER2 does not appear to bind DNA, suggesting indirect transcriptional inhibition. Expression oscillates with a 24 hour rhythm in the suprachiasmatic nucleus (SCN) and the whole eyes. Oscillations are maintained under const

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each

This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in

The Proteinase-activated receptor 2 (PAR2) is a member of the proteinase-activated receptor subfamily. It is activated through proteolytic exposure of an occult tethered ligand by trypsin and trypsin-like proteases. This is in contrast to other members of the subfamily which are activated by the protease thrombin. PAR2 has been implicated in acute inflammatory response, asthma, and pain transmission. PAR2 expression has been documented in the periphery. ESTs have been isolated from adrenal, b

Catalyzes the last step in the transsulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure.$nDefects in CT

The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]