SARDH:FAD oxidatively demethylates SARC to Gly

Stable Identifier
Homo sapiens
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Mitochondrial sarcosine dehydrogenase (SARDH) oxidatively demethylates sarcosine (SARC, aka methylglycine) to glycine (Gly) and formaldehyde (CH2O), an active 1-carbon unit (Eschenbrenner & Jorns 1999, ). SARDH requires one FAD as cofactor, which is reduced during the reaction. Defects in SARDH cause sarcosinemia (SARCOS; MIM:268900), a disorder characterised by an increased concentration of sarcosine in plasma and increased sarcosine excretion in urine. The clinical phenotypes of sarcosinemia are diverse, ranging from normal (most common) to ones associated with mental retardation, growth delay and muscular abnormalities (Bar-joseph et al. 2012).

Literature References
PubMed ID Title Journal Year
10444331 Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia

Eschenbrenner, M, Jorns, MS

Genomics 1999
22825317 Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

Pras, E, Garnotel, R, Bar-joseph, I, Reznik-Wolf, H, Benarrosh, A, Gillery, P, Rienstein, S, Zlotnik, J, Hofliger, N, Auray-Blais, C, Dushnitzky, M, Pode-Shakked, B, Anikster, Y, Marek-Yagel, D, Goldstein, N, Abu-Horvitz, A, Dekel, M

Hum. Genet. 2012
Catalyst Activity

sarcosine dehydrogenase activity of SARDH:FAD [mitochondrial matrix]

Orthologous Events
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