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2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. [2] It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy , however most cases identified through newborn screening have been asymptomatic .
32 100705 Ensembl ENSG00000076555 ENSMUSG00000042010 UniProt O00763 E9Q4Z2 RefSeq (mRNA) NM_001093 NM_133904 RefSeq (protein) NP_001084 NP_598665 NP_001390456 NP_001390457 NP_001390458 Location (UCSC) Chr 12: 109.12 – 109.27 Mb Chr 5: 114.28 – 114.39 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Acetyl-CoA carboxylase 2 also known as ACC-beta or ACC2 is an enzyme that in humans ...
The cytosolic acetyl-CoA can also condense with acetoacetyl-CoA to form 3-hydroxy-3-methylglutaryl-CoA which is the rate-limiting step controlling the synthesis of cholesterol. [16] Cholesterol can be used as is, as a structural component of cellular membranes, or it can be used to synthesize steroid hormones , bile salts , and vitamin D .
Beta oxidation of acyl-CoA occurs in four steps. 1. Acyl-CoA dehydrogenase catalyzes dehydrogenation of the acyl-CoA, creating a double bond between the alpha and beta carbons. [6] FAD is the hydrogen acceptor, yielding FADH2. [7] 2. Enoyl-CoA hydrase catalyzes the addition of water across the newly formed double bond to make an alcohol.
In enzymology, an isovaleryl-CoA dehydrogenase (EC 1.3.8.4) is an enzyme that catalyzes the chemical reaction 3-methylbutanoyl-CoA + acceptor ⇌ {\displaystyle \rightleftharpoons } 3-methylbut-2-enoyl-CoA + reduced acceptor
The systematic name of this enzyme class is 2-methylpropanoyl-CoA CoA-carbonylmutase. Other names in common use include isobutyryl coenzyme A mutase , and butyryl-CoA:isobutyryl-CoA mutase . It uses adenosylcobalamin as a cofactor, which is bound at the enzyme's vitamin B12-binding domain .
Development of the model continued in a Joint context and in November 2003 the C2 Information Exchange Data Model (C2IEDM) Edition 6.1 was released. Additional development to this model, incorporating the NATO Corporate Reference model, resulted in the model changing its name again to JC3IEDM with JC3IEDM Ed 0.5 being issued in December 2004.
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