SARDH
Function
Catalyzes the last step of the oxidative degradation of choline to glycine. Converts sarcosine into glycine.
Involvement in disease
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 intellectual disability and neurologic problems.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.
Sequence Similarities
Belongs to the GcvT family.
Tissue Specificity
Expressed in pancreas, liver and kidney.
Cellular localization
- Mitochondrion matrix
Alternative names
DMGDHL1, SARDH, SarDH, BPR-2