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SARDH 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.
Gene Name: | sarcosine dehydrogenase |
Synonyms: | SARDH, DMGDHL1, SARD, SDH, BPR-2, SAR, Sarcosine dehydrogenase |
Target Sequences: | NM_007101 NP_009032.2 Q9UL12 |
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