| SARDH |
| LOCUS ID | 1757 | ||||||||||
| GENE_SYMBOL | SARDH | ||||||||||
| GENE NAME | sarcosine dehydrogen | ||||||||||
| SYNONYMNS | SAR, SDH, SARD, BPR-2, DMGDHL1 | ||||||||||
| CHROMOSOME | 9 | ||||||||||
| HOMOLOGENE ID | 5149 |
| microRNAs | NA | NA |
| 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 |
| Retinopathy | 1. polymorphisms of SDH gene may be correlated with SDH gene expression levels in diabetic retis, thus being a valuable genetic marker for diabetic retinopathy | 12615520 |