SARDH
LOCUS ID1757
GENE_SYMBOLSARDH
GENE NAMEsarcosine dehydrogenase
SYNONYMNSSAR, SDH, SARD, BPR-2, DMGDHL1
CHROMOSOME9
HOMOLOGENE ID5149
microRNAsNANA
GENE 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. Altertively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. polymorphisms of SDH gene may be correlated with SDH gene expression levels in diabetic retis, thus being a valuable genetic marker for diabetic retinopathy12615520