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HMGCL is found on chromosome 1p36.11's short arm and codes for the enzyme 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). [ 4 ] [ 5 ] This mitochondrial enzyme contributes to the metabolism of dietary proteins by converting HMG-CoA into acetyl-CoA and acetoacetate , which is the last stage of the breakdown of leucine and fat ...
β-Hydroxy β-methylglutaryl-CoA (HMG-CoA), also known as 3-hydroxy-3-methylglutaryl coenzyme A, is an intermediate in the mevalonate and ketogenesis pathways. It is formed from acetyl CoA and acetoacetyl CoA by HMG-CoA synthase. The research of Minor J. Coon and Bimal Kumar Bachhawat in the 1950s at University of Illinois led to its discovery ...
HMG-CoA reductase (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase, official symbol HMGCR) is the rate-controlling enzyme (NADH-dependent, EC 1.1.1.88; NADPH-dependent, EC 1.1.1.34) of the mevalonate pathway, the metabolic pathway that produces cholesterol and other isoprenoids.
In biochemistry, hydroxymethylglutaryl-CoA synthase or HMG-CoA synthase EC 2.3.3.10 is an enzyme which catalyzes the reaction in which acetyl-CoA condenses with acetoacetyl-CoA to form 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA). This reaction comprises the second step in the mevalonate-dependent isoprenoid biosynthesis pathway.
The 3 substrates of this enzyme are (R)-mevalonate, CoA, and NAD +, whereas its 3 products are 3-hydroxy-3-methylglutaryl-CoA, NADH, and H +. This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD + or NADP + as acceptor. The systematic name of this enzyme class is (R)-mevalonate:NAD ...
The 3 substrates of this enzyme are (R)-mevalonate, CoA, and NADP +, whereas its 3 products are -3-hydroxy-3-methylglutaryl-CoA, NADPH, and H +. This enzyme belongs to the family of oxidoreductases , to be specific those acting on the CH-OH group of donor with NAD + or NADP + as acceptor.
15360 Ensembl ENSG00000134240 ENSMUSG00000027875 UniProt P54868 P54869 RefSeq (mRNA) NM_001166107 NM_005518 NM_008256 RefSeq (protein) NP_001159579 NP_005509 NP_032282 Location (UCSC) Chr 1: 119.75 – 119.77 Mb Chr 3: 98.19 – 98.22 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) is an enzyme in humans that is encoded by the ...
In terms of sarcoglycan deficiency, there can be variance (if α-sarcoglycan and γ-sarcoglycan are not present then there's a mutation in LGMD2D). [ 4 ] The 2014 Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies indicates that individuals suspected of having the inherited disorder should have ...