Gene Symbol | SARDH |
Entrez Gene ID | 1757 |
Full Name | sarcosine dehydrogenase |
Synonyms | BPR-2,DMGDHL1,SAR,SARD,SDH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | [Sarcosinemia], 268900 (3) |