SARDH gene

sarcosine dehydrogenase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Sarcosine dehydrogenase deficiency

From UniProt:

Sarcosinemia (SARCOS): A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems. [MIM:268900]

Cytogenetic Location: 9q34.2, which is the long (q) arm of chromosome 9 at position 34.2

Molecular Location: base pairs 133,663,074 to 133,739,958 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.2, which is the long (q) arm of chromosome 9 at position 34.2
  • BPR-2
  • DMGDHL1
  • SAR
  • SARD
  • SDH