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The systematic name of this enzyme class is acetyl-CoA:acetoacetyl-CoA C-acetyltransferase (thioester-hydrolysing, carboxymethyl-forming).Other names in common use include (S)-3-hydroxy-3-methylglutaryl-CoA acetoacetyl-CoA-lyase, (CoA-acetylating), 3-hydroxy-3-methylglutaryl CoA synthetase, 3-hydroxy-3-methylglutaryl coenzyme A synthase, 3-hydroxy-3-methylglutaryl coenzyme A synthetase, 3 ...
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 ...
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019 [update] , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes ; the rest represented genes , many of which were ...
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1
In genetics, a morbid map is a chart or diagram of diseases and the chromosomal location of genes the diseases are associated with. A morbid map exists as an appendix of the Online Mendelian Inheritance in Man (OMIM) knowledgebase, listing chromosomes and the genes mapped to specific sites on those chromosomes, and this format most clearly reveals the relationship between gene and phenotype.