SARDH Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SARDH |
| Official Name | sarcosine dehydrogenase [Source:HGNC Symbol;Acc:HGNC:10536] |
| Ensembl ID | ENSG00000123453 |
| Bio databases IDs | |
| Aliases | sarcosine dehydrogenase |
| Synonyms | BPR-2, DMGDHL1, LOC366279, SAR, sarcosine dehydrogenase, SARD, SDH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SARDH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FAD dependent oxidoreductase central domain
- flavin adenine dinucleotide binding
- Glycine cleavage T-protein C-terminal barrel domain
- Aminomethyltransferase folate-binding domain
- oxidoreductase acting on the CH-NH group of donors with a flavin as acceptor
- folic acid binding
- glycine cleavage system aminomethyltransferase GcvT
- dimethylglycine dehydrogenase
- FAD dependent oxidoreductase
- enzyme
- sarcosine oxidase, monomeric form
- sarcosine dehydrogenase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- diabetes mellitus
- sarcosine dehydrogenase deficiency
- hepatitis B surface antigen-negative hepatitis C virus negative hepatocellular carcinoma
- asthma
- hepatitis B virus-related hepatocellular carcinoma
regulates
- choline
- glycine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SARDH gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- sarcosine dehydrogenase activity