{"product_id":"human-methylmalonate-semialdehyde-dehydrogenase-acylating-mitochondrial-aldh6a1-elisa-kit","title":"Human Methylmalonate-semialdehyde Dehydrogenase, Acylating, Mitochondrial, ALDH6A1 ELISA Kit","description":"\u003cp\u003e\u003cb\u003eSize\u003c\/b\u003e:96 Tests-1 Kit\u003c\/p\u003e\u003cp\u003e\u003cb\u003eBackground\u003c\/b\u003e:Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene. This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Methylmalonate semialdehyde dehydrogenase deficiency is caused by mutations in this gene and the resulting protein.\u003c\/p\u003e\u003cp\u003e\u003cb\u003eResearch_area\u003c\/b\u003e:Signal Transduction\u003c\/p\u003e\u003cp\u003e\u003cb\u003eApplications\u003c\/b\u003e:ELISA\u003c\/p\u003e\u003cp\u003e\u003cb\u003eTarget_protein\u003c\/b\u003e:ALDH6A1\u003c\/p\u003e\u003cp\u003e\u003cb\u003eReactivity\u003c\/b\u003e:Human\u003c\/p\u003e\u003cp\u003e\u003cb\u003eAssay type\u003c\/b\u003e:Sandwich\u003c\/p\u003e\u003cp\u003e\u003cb\u003eSensitivity\u003c\/b\u003e:0.028ng\/ml\u003c\/p\u003e\u003cp\u003e\u003cb\u003eDetection range\u003c\/b\u003e:0.05-15ng\/ml\u003c\/p\u003e\u003cp\u003e\u003cb\u003eSample type\u003c\/b\u003e:Serum, plasma or other biological fluids\u003c\/p\u003e\u003cp\u003e\u003cb\u003eFull product name\u003c\/b\u003e:Methylmalonate-semialdehyde dehydrogenase[acylating],mitochondrial\u003c\/p\u003e\u003cp\u003e\u003cb\u003eSpecies\u003c\/b\u003e:Human\u003c\/p\u003e\u003cp\u003e\u003cb\u003eStorage\u003c\/b\u003e:2-8ºC\u003c\/p\u003e\u003cp\u003e\u003cb\u003eAssay time\u003c\/b\u003e:1h 30m\u003c\/p\u003e\u003cp\u003e\u003cb\u003eUniProt accession\u003c\/b\u003e:Q02252\u003c\/p\u003e\u003cp\u003e\u003cb\u003eMASS(Da)\u003c\/b\u003e:57,840\u003c\/p\u003e\u003cp\u003e\u003cb\u003eGeneID\u003c\/b\u003e:4329\u003c\/p\u003e\u003cp\u003e\u003cb\u003eSynonyms\u003c\/b\u003e:Aldehyde dehydrogenase family 6 member A1;ALDH6A1;Malonate-semialdehyde dehydrogenase [acylating;Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial;MMSADHA;MMSDH\u003c\/p\u003e\u003cp\u003e\u003cb\u003eGene names\u003c\/b\u003e:ALDH6A1\u003c\/p\u003e\u003cp\u003e\u003cb\u003eStandard solution\u003c\/b\u003e:16ng\/ml\u003c\/p\u003e","brand":"GeneBio Systems","offers":[{"title":"Default Title","offer_id":48648088223844,"sku":"E3571Hu","price":696.95,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0558\/8588\/9636\/files\/no_image_default_image-jpeg_4dbc44bf-9800-4d70-adf7-bf7f838f4413.jpg?v=1782708157","url":"https:\/\/www.genebiosystems.com\/en-de\/products\/human-methylmalonate-semialdehyde-dehydrogenase-acylating-mitochondrial-aldh6a1-elisa-kit","provider":"GeneBio ","version":"1.0","type":"link"}