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Glycerol kinase deficiency has two main causes.. The first cause is isolated enzyme deficiency. The enzyme glycerol kinase is encoded by the X-chromosome in humans. [8] It acts as a catalyst in the phosphorylation of glycerol to glycerol-3-phosphate which plays a key role in formation of triacylglycerol (TAG) and fat storage.
Hyperglycerolemia, also known as glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides and glycerophospholipids in the body. Excess amounts of glycerol can be found in the blood and/ or ...
Glycerol kinase, encoded by the gene GK, is a phosphotransferase enzyme involved in triglycerides and glycerophospholipids synthesis. Glycerol kinase catalyzes the transfer of a phosphate from ATP to glycerol thus forming glycerol 3-phosphate :
2645 103988 Ensembl ENSG00000106633 ENSMUSG00000041798 UniProt P35557 P52792 RefSeq (mRNA) NM_033508 NM_000162 NM_033507 NM_010292 NM_001287386 RefSeq (protein) NP_000153 NP_277042 NP_277043 NP_001341729 NP_001341730 NP_001341731 NP_001341732 NP_001274315 NP_034422 Location (UCSC) n/a Chr 11: 5.85 – 5.9 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glucokinase Identifiers EC no ...
Usually, glycerol 3-phosphate is generated from glucose by glycolysis, in the liquid of the cell's cytoplasm (the cytosol). Glyceroneogenesis is used when the concentrations of glucose in the cytosol are low, and typically uses pyruvate as the precursor, but can also use alanine, glutamine, or any substances from the TCA cycle.
The free fatty acids and glycerol are then released into the blood. The activity of hormone sensitive lipase is regulated by the circulating hormones insulin, glucagon, norepinephrine, and epinephrine. Lipolysis can be regulated through cAMP's binding and activation of protein kinase A (PKA). PKA can phosphorylate lipases, perilipin 1A, and CGI ...
(3) monoacylglycerol + -H 2 O = glycerol + a carboxylate. HSL is an intracellular neutral lipase capable of hydrolyzing a variety of esters. [7] The enzyme has a long and a short form. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production.
The reaction it catalyzes is: pyruvate + HCO − 3 + ATP → oxaloacetate + ADP + P. It is an important anaplerotic reaction that creates oxaloacetate from pyruvate. PC contains a biotin prosthetic group [1] and is typically localized to the mitochondria in eukaryotes with exceptions to some fungal species such as Aspergillus nidulans which have a cytosolic PC.
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