Synonyms:BPR-2, DMGDHL1, ENTREZ:1757, HGNC:10536, MIM:604455, NM_001134707, NM_007101, NP_001128179, NP_009032, SAR, SARD, SARDH, SDH, XM_017014367, XM_017014368, XP_016869856, XP_016869857, XR_001746213, XR_001746214, XR_001746215, XR_001746216, XR_001746217, XR_001746218, XR_002956762, XR_929726, sarcosine dehydrogenase
Omim:OMIM:604455
Id:ENSG00000123453
Hgnc:HGNC:10536
Description:sarcosine dehydrogenase
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]