• 靶点：
• SARDH

• 简介：
• >>Glycine, serine and threonine metabolism;>>Metabolic pathways

• 基因名称：
• SARDH DMGDHL1

• 蛋白名称：
• SARDH

• Human Gene Id：
• 1757

• Human Swiss Prot No：
• Q9UL12

• Mouse Gene Id：
• 192166

• Mouse Swiss Prot No：
• Q99LB7

• Rat Gene Id：
• 114123

• Rat Swiss Prot No：
• Q64380

• 免疫原：
• Synthesized peptide derived from human SARDH AA range: 279-329

• 特异性：
• This antibody detects endogenous levels of SARDH at Human/Mouse/Rat

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1:500-2000;IHC 1:50-300; ELISA 2000-20000

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 101kD

• 背景：
• This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008],

• 功能：
• catalytic activity:Sarcosine + acceptor + H(2)O = glycine + formaldehyde + reduced acceptor.,cofactor:Binds 1 FAD covalently per monomer.,disease:Defects in SARDH are a ause of sarcosinemia [MIM:268900]. Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28'000 to 1:350'000 in newborn screening programs. Sarcosinemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner.,pathway:Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.,similarity:Belongs to the gcvT family.,

• 细胞定位：
• Mitochondrion matrix .

• 组织表达：
• Expressed in pancreas, liver and kidney.

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