SARDH sarcosine dehydrogenase
Gene ID: 1757, updated on 2-Nov-2024Gene type: protein coding
Also known as: SAR; SDH; SARD; BPR-2; DMGDHL1
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- Go to complete Gene record for SARDH
- Go to Variation Viewer for SARDH variants
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. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Sarcosine dehydrogenase deficiency | See labs |
Genomic context
- Location:
- 9q34.2
- Sequence:
- Chromosome: 9; NC_000009.12 (133659418..133739955, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SARDH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SARDH database
- Variation ViewerRelated Variants
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