产品名称
DMGDH Rabbit Polyclonal Antibody
别名
DMGDH; Dimethylglycine dehydrogenase; mitochondrial; ME2GLYDH
蛋白名称
Dimethylglycine dehydrogenase mitochondrial
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=29958
Human Swissprot No.
Q9UI17
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q9UI17/entry
Mouse Swissprot No.
Q9DBT9
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9DBT9
免疫原
The antiserum was produced against synthesized peptide derived from human DMGDH. AA range:817-866
特异性
DMGDH Polyclonal Antibody detects endogenous levels of DMGDH protein.
宿主
Polyclonal, Rabbit,IgG
背景介绍
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. [provided by RefSeq, Jul 2013],
信号通路
Glycine; serine and threonine metabolism;
功能
catalytic activity:N,N-dimethylglycine + acceptor + H(2)O = sarcosine + formaldehyde + reduced acceptor.,cofactor:Binds 1 FAD covalently per monomer.,disease:Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) [MIM:605850]. DMGDHD is a disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.,pathway:Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.,similarity:Belongs to the gcvT family.,subunit:Monomer.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
