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],
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Function:
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.,
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Cellular Localization:
Mitochondrion matrix .
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Tissue Expression:
Expressed in pancreas, liver and kidney.
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Research Areas:
>>Glycine, serine and threonine metabolism ;
>>Metabolic pathways