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A26034

DMGDH Rabbit monoclonal antibody

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SKU:
A26034
Zusätzliche Namen:
DMGDHD|ME2GLYDH
Anwendung:
ELISA, WB, IF
Molekulargewicht:
97 kDa
Spezies-Reaktivität:
Human
Aufreinigung:
Affinity Purified
Lagerbedingungen:
-20[o]C Avoid freeze/thaw cycles.
Hersteller:
Abclonal
Host:
Rabbit
Reaktivitäten:
Human, Mouse, Rat
Immunogen:
Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulierung:
Unmodified
Sequenz:
SGLYQRLESKCSMGFHAGWEQPHWFYKPGQDTQYRPSFRRTNWFEPVGSEYKQVMQRVAVTDLSPFGKFNIKGQDSIRLLDHLFANVIPKVGFTNISHMLTPKGRVYAELTVSHQSPGEFLLITGSGSELHDLRWIEEEAVKGGYDVEIKNITDELGVLGVAGPQARKVLQKLTSEDLSDDVFKFLQTKSLKVSNIPVTAIRISYTGELGWELYHRREDSVALYDAIMNAGQEEGIDNFGTYAMNALRLEKAFRAWGLEMNCDTNPLEAGLEYFVKLNKPADFIGKQALKQIKAKGLKRRLVCLTLATDDVDPEGNESIWYNGKVVGNTTSGSYSYSIQKSLAFAYVPVQLSEVGQQVEVELLGKNYPAVIIQEPLVLTEPTRNRLQKKGGKDKT
Uniprot:
Q9UI17
Synonyme:
dimethylglycine dehydrogenase, mitochondrial;DMGDHD;ME2GLYDH
Weitere Details:
This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants.
Versandbedingungen:
Blue Ice