PathWhiz

PathWhiz ID	Pathway	Meta Data
PW121915 View Pathway	disease 2-Hydroxyglutric Aciduria (D and L Form) Rattus norvegicus L-2-Hydroxyglutaric Aciduria (D-2-Hydroxyglutaric Aciduria ) is an autosomal recessive disease caused by a mutation in the L2HGDH gene which codes for L-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of L-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; and L-lysine in plasma and spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. D-2-Hydroxyglutaric Aciduria is an autosomal recessive disease caused by a mutation in the D2HGDH gene which does for D-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of D-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; oxoglutaric acid in urine; and gabba-aminobutyric acid in spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW000212 View Pathway	disease 2-Hydroxyglutric Aciduria (D and L Form) Homo sapiens L-2-Hydroxyglutaric Aciduria (D-2-Hydroxyglutaric Aciduria ) is an autosomal recessive disease caused by a mutation in the L2HGDH gene which codes for L-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of L-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; and L-lysine in plasma and spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. D-2-Hydroxyglutaric Aciduria is an autosomal recessive disease caused by a mutation in the D2HGDH gene which does for D-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of D-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; oxoglutaric acid in urine; and gabba-aminobutyric acid in spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 20, 2013 at 13:00 Last Updated: August 20, 2013 at 13:00
PW127064 View Pathway	disease 2-HG (updated) Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Nitya Khetarpal Created On: August 04, 2022 at 13:04 Last Updated: August 04, 2022 at 13:04
PW248313 View Pathway	metabolic 2-Heptyl-3-hydroxy-quinolone (PQS) biosynthesis Pseudomonas aeruginosa 2-Heptyl-3-hydroxy-4-quinolone (PQS) is key to quorum sensing and virulence in bacteria like Pseudomonas aeruginosa PAO1. This biosynthesis begins with the precursor chorismate, which is derived from the shikimate pathway during the biosynthesis of aromatic amino acids e.g., phenylalanine, tyrosine and tryptophan. Chorismate is converted into anthranilate by anthranilate synthase, then into Anthraniloyl-CoA. The subsequent steps involve the action of enzymes 3-oxoacyl-ACP synthase, thioesterase PqsE, and 2-heptyl-4(1H)-quinolone synthase, which facilitate the conversion of Anthraniloyl-CoA to 2-heptyl-4(1H)-quinolone (HHQ), the direct precursor of PQS. Finally, 2-heptyl-3-hydroxy-4(1H)-quinolone synthase hydroxylates HHQ to produce PQS thus linking primary metabolism to secondary metanolism, significant to microbial communication and adaptation. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Julia Wakoli Created On: May 17, 2024 at 16:32 Last Updated: May 17, 2024 at 16:32
PW122131 View Pathway	disease 2-Aminoadipic 2-Oxoadipic Aciduria Rattus norvegicus 2-Aminoadipic 2-oxoadipic aciduria is a disorder of lysine metabolism caused by a defective DHTKD1 gene. DHTKD1 is predicted to code for a component of a supercomplex similar to the 2-oxoglutarate dehydrogenase complex (OGDHc) which catalyzes the conversion of 2-oxoadipate into glutaryl-CoA. This disease is characterized by a large accumulation of 2-oxoadipate and 2-hydroxyadipate in the urine. Symptoms of the disease include mild to severe intellectual disability, developmental delay, ataxia, muscular hypotonia, and epilepsy. However, most cases are asymptomatic. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW127270 View Pathway	disease 2-Aminoadipic 2-Oxoadipic Aciduria Homo sapiens 2-Aminoadipic 2-oxoadipic aciduria is a disorder of lysine metabolism caused by a defective DHTKD1 gene. DHTKD1 is predicted to code for a component of a supercomplex similar to the 2-oxoglutarate dehydrogenase complex (OGDHc) which catalyzes the conversion of 2-oxoadipate into glutaryl-CoA. This disease is characterized by a large accumulation of 2-oxoadipate and 2-hydroxyadipate in the urine. Symptoms of the disease include mild to severe intellectual disability, developmental delay, ataxia, muscular hypotonia, and epilepsy. However, most cases are asymptomatic. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: November 25, 2022 at 09:05 Last Updated: November 25, 2022 at 09:05
PW121907 View Pathway	disease 2-Aminoadipic 2-Oxoadipic Aciduria Mus musculus 2-Aminoadipic 2-oxoadipic aciduria is a disorder of lysine metabolism caused by a defective DHTKD1 gene. DHTKD1 is predicted to code for a component of a supercomplex similar to the 2-oxoglutarate dehydrogenase complex (OGDHc) which catalyzes the conversion of 2-oxoadipate into glutaryl-CoA. This disease is characterized by a large accumulation of 2-oxoadipate and 2-hydroxyadipate in the urine. Symptoms of the disease include mild to severe intellectual disability, developmental delay, ataxia, muscular hypotonia, and epilepsy. However, most cases are asymptomatic. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW000696 View Pathway	disease 2-Aminoadipic 2-Oxoadipic Aciduria Homo sapiens 2-Aminoadipic 2-oxoadipic aciduria is a disorder of lysine metabolism caused by a defective DHTKD1 gene. DHTKD1 is predicted to code for a component of a supercomplex similar to the 2-oxoglutarate dehydrogenase complex (OGDHc) which catalyzes the conversion of 2-oxoadipate into glutaryl-CoA. This disease is characterized by a large accumulation of 2-oxoadipate and 2-hydroxyadipate in the urine. Symptoms of the disease include mild to severe intellectual disability, developmental delay, ataxia, muscular hypotonia, and epilepsy. However, most cases are asymptomatic. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: June 23, 2014 at 02:09 Last Updated: June 23, 2014 at 02:09
PW122411 View Pathway	metabolic 2-Amino-3-Carboxymuconate Semialdehyde Degradation Homo sapiens This pathway is part of a major route of the degradation of L-tryptophan. It begins with 2-amino-3-carboxymuconate-6-semialdehyde which is generated from L-tryptophan degradation. The 2-amino-3-carboxymuconate-6-semialdehyde first is acted upon by a decarboxylase, forming 2-aminomuconic acid semialdehyde, which is then dehydrogenated by 2-aminomuconic semialdehyde dehydrogenase to form 2-aminomuconic acid. An unknown protein forms a 2-aminomuconate deaminase which forms (3E)-2-oxohex-3-enedioate, and a second unknown protein forms a 2-aminomuconate reductase, which forms oxoadipic acid from (3E)-2-oxohex-3-enedioate. Finally, within the mitochondria, oxoadipic acid is dehydrogenated and a coenzyme A is attached by the organelle’s oxoglutarate dehydrogenase complex, forming glutaryl-CoA. Glutaryl-CoA can then be further degraded. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Eponine Oler Created On: March 25, 2019 at 21:57 Last Updated: March 25, 2019 at 21:57
PW124102 View Pathway	signaling 2-AG on CB1 Homo sapiens 2-Arachidoylglycerol acts as a full agonist of both CB1 and CB2 receptors. Here, its numerous effects on CB1 receptors are presented, including a route of its biosynthesis. Within the postsynaptic neuron, PIP2 is hydrolyzed to form a diacylglycerol molecule, which is then further hydrolyzed with the membranous enzyme DAGLa to form 2-AG. The completed 2-AG molecule is then released from the postsynaptic membrane and acts retroactively on CB1 receptors located on the presynaptic membrane. Acting as a G-protein coupled receptor, CB1 directly activates mitogen activated protein kinase (MAPK) and nitric oxide synthase. The activation of MAPK induces its own signalling pathway, which regulates mitosis and the cellular cycle through translation and transcription. Nitric oxide synthase is activated to produce nitric oxide, which has a number of roles in neurons, most notable of which is promoting neuroplasticity through its effect on potassium channels. Nitric oxide also activates soluble guanylyl cyclase, which mediates calcium channels through its production of cGMP. Apart from its activating action, the activated CB1 receptor also inhibits both calcium channels and forskolin activated adenylate cyclase. The inhibition of calcium channels works directly to block the flow of calcium ions into the presynaptic neuron, while the inhibition of adenylate cyclase decreases levels of cAMP within the neuron, leading to activation of potassium channels and focal adhesion kinase (FAK). FAK is involved in intracellular signalling that promotes cell migration and adhesion, while potassium channels work to pump potassium ions out of the presynaptic neuron and into the synaptic cleft. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Alyssah Created On: August 21, 2020 at 16:43 Last Updated: August 21, 2020 at 16:43