Entity Details

Primary name SARDH
Entity type gene
Source Source Link

Details

PrimaryID1757
RefseqGeneNG_008987
SymbolSARDH
Namesarcosine dehydrogenase
Chromosome9
Location9q34.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSARDH_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0008480 sarcosine dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0042426 choline catabolic process
GO:1901053 sarcosine catabolic process

Diseases

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Disease IDSourceNameDescription
268900 OMIMSarcosinemia (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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
SARDHTP53BP1UniProt29656893 details
SARDHNPM1BioGRID, IntAct30021884 details
SARDHFKBP4BioGRID22939629 details
SARDHUBE2NBioGRID22939629 details