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Upon further spectroscopic characterization and investigation of the substrate pool of this enzyme, Dr. Ziegler discovered that this enzyme solely bound FAD molecule that could form a C4a-hydroxyperoxyflavin intermediate, and that this enzyme could oxidize a wide variety of substrates with no common structural features, including phosphines ...
Arguably the most important of the Phase II (conjugative) enzymes, UGTs have been the subject of increasing scientific inquiry since the mid-to-late 1990s. The reaction catalyzed by the UGT enzyme involves the addition of a glucuronic acid moiety to xenobiotics and is the most important pathway for the human body's elimination of the most ...
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
Fumarase deficiency is caused by a mutation in the fumarate hydratase (FH) gene in humans, which encodes the enzyme that converts fumarate to malate in the mitochondria. Other mutant alleles of the FH gene, located on human chromosome 1 at position 1q42.1, cause multiple cutaneous and uterine leiomyomata , hereditary leiomyomatosis and renal ...
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Human G6PD has over 30% identity in amino acid sequence to G6PD sequences from other species. [5] Humans also have two isoforms of a single gene coding for G6PD. [6] Moreover, at least 168 disease-causing mutations in this gene have been discovered. [7]
Unusual names have caused issues for scientists explaining genetic diseases to lay-people, such as when an individual is affected by a gene with an offensive or insensitive name. [14] This has particularly been noted in patients with a defect in the sonic hedgehog gene pathway and the disease formerly named CATCH22 for "cardiac anomaly, T-cell ...
The biochemical pathways required to utilize glucose as a carbon and energy source are highly conserved from bacteria to humans. PGM1 is an evolutionarily conserved enzyme that regulates one of the most important metabolic carbohydrate trafficking points in prokaryotic and eukaryotic organisms, catalyzing the bi-directional interconversion of glucose 1-phosphate (G-1-P) and glucose 6-phosphate ...