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Hyperlysinemia has an autosomal recessive pattern of inheritance. Hyperlysinemia is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
"Ketoglutaric acid" and "ketoglutarate", when not qualified as α or β, almost always refers respectively to α-ketoglutaric acid or α-ketoglutarate. [2] α-Ketoglutarate is an intermediate in the citric acid cycle, a cycle that supplies the energy to cells. [2] It is also an intermediate in or product of several other metabolic pathways.
Lysyl hydroxylases (or procollagen-lysine 5-dioxygenases) are alpha-ketoglutarate-dependent hydroxylases enzymes that catalyze the hydroxylation of lysine to hydroxylysine. [ 1 ] [ 2 ] Lysyl hydroxylases require iron and vitamin C as cofactors for their oxidation activity.
A deficiency in any of the enzymes of this complex as well as an inhibition of the complex as a whole leads to a buildup of branched-chain amino acids and their harmful derivatives in the body. These accumulations lend a sweet smell to bodily excretions (such as ear wax and urine), leading to a pathology known as maple syrup urine disease .
TET enzymes are dioxygenases in the family of alpha-ketoglutarate-dependent hydroxylases. A TET enzyme is an alpha-ketoglutarate (α-KG) dependent dioxygenase that catalyses an oxidation reaction by incorporating a single oxygen atom from molecular oxygen (O 2 ) into its substrate, 5-methylcytosine in DNA (5mC), to produce the product 5 ...
This page was last edited on 9 June 2021, at 22:30 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply ...
Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. It is similar to the separate enzymes coded for by the LYS1 and LYS9 genes in yeast, and related to, although not similar in structure, the bifunctional enzyme found in plants.
Mutations in isocitrate dehydrogenase (IDH1 and IDH2), which frequently occur in glioma and AML, [1] [2] [3] produce D-2-hydroxyglutarate from alpha-ketoglutarate. [4] D-2-hydroxyglutarate accumulates to very high concentrations which inhibits the function of enzymes that are dependent on alpha-ketoglutarate, including histone lysine demethylases.