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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SARDH
sarcosine dehydrogenase
Chromosome 9 · 9q34.2
NCBI Gene: 1757Ensembl: ENSG00000123453.20HGNC: HGNC:10536UniProt: A8K596
25PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionsarcosine dehydrogenase activitycytoplasmmitochondrial matrixsarcosinemiadiabetes mellitustype 2 diabetes mellitusdevice complication
✦AI Summary

SARDH (sarcosine dehydrogenase) is a mitochondrial flavoenzyme that catalyzes the final oxidative degradation step of choline to glycine, specifically converting sarcosine to glycine 1. The enzyme contains a covalently bound FAD cofactor and is primarily expressed in liver, with significant presence in lung, pancreas, kidney, thymus, and oviduct 1. SARDH functions as a critical regulator of one-carbon metabolism, with emerging evidence indicating tumor suppressor activity 2. Loss of SARDH leads to sarcosine accumulation and reduced S-adenosylmethionine (SAM) consumption, impairing epigenetic regulation and T-cell function 3. SARDH alterations are associated with multiple cancer types; deleterious mutations occur in colorectal cancer, and decreased expression correlates with enhanced cellular invasion and proliferation 24. In breast cancer, SARDH expression varies by subtype, with lowest expression in triple-negative breast cancer 5. Genetic deficiency of SARDH causes sarcosinemia, an amino acid metabolism disorder in humans 1. Targeting SARDH represents a potential cancer therapeutic strategy through modulation of T-cell metabolism and one-carbon pathway regulation 3.

Sources cited
1
SARDH is a mitochondrial flavoenzyme involved in oxidative degradation of choline to glycine, contains FAD cofactor, is expressed primarily in liver and other tissues, and its absence causes sarcosinemia
PMID: 9839943
2
SARDH regulates T-cell fate through one-carbon metabolism; SARDH knockdown causes sarcosine accumulation and reduced SAM consumption, affecting epigenetic regulation and NF-κB signaling
PMID: 40830700
3
SARDH functions as a tumor suppressor; deleterious mutations occur in colorectal cancer; SARDH depletion promotes proliferation, migration, and invasion; downregulation observed across multiple cancer types
PMID: 30693981
4
SARDH cooperates with TMEFF2 to modulate one-carbon metabolism and sarcosine-induced invasion in prostate cancer cells
PMID: 23824605
5
SARDH expression varies by breast cancer subtype, with lowest expression in triple-negative breast cancer and associations with disease-free survival
PMID: 24884785
Disease Associationsⓘ21
sarcosinemiaOpen Targets
0.62Moderate
diabetes mellitusOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.36Weak
device complicationOpen Targets
0.27Weak
dry age related macular degenerationOpen Targets
0.24Weak
placental retentionOpen Targets
0.23Weak
age-related macular degenerationOpen Targets
0.22Weak
open-angle glaucomaOpen Targets
0.18Weak
glaucomaOpen Targets
0.14Weak
gastrointestinal stromal tumorOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
hypertensionOpen Targets
0.11Weak
renal cell carcinomaOpen Targets
0.10Weak
nonpapillary renal cell carcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
renal carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
essential hypertensionOpen Targets
0.06Suggestive
SarcosinemiaUniProt
Pathogenic Variants2
NM_001134707.2(SARDH):c.1568_1575dup (p.Gly526fs)Pathogenic
not provided
★☆☆☆2025→ Residue 526
NM_001134707.2(SARDH):c.1306del (p.Asp436fs)Likely pathogenic
Sarcosine dehydrogenase deficiency
★☆☆☆2022→ Residue 436
View on ClinVar ↗
Related Genes
GLDCProtein interaction97%AGXTProtein interaction97%ALAS2Protein interaction97%DAOProtein interaction97%CNPY3-GNMTProtein interaction97%SHMT1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
3%
Lung
2%
Bone Marrow
1%
Brain
1%
Heart
1%
Gene Interaction Network
Click a node to explore
SARDHGLDCAGXTALAS2DAOCNPY3-GNMTSHMT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UL12
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.77–1.09]
RankingsWhere SARDH stands among ~20K protein-coding genes
  • #13,059of 20,598
    Most Researched25
  • #4,533of 5,498
    Most Pathogenic Variants2
  • #11,074of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedSARDH
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
PMID: 33726816
Genome Med · 2021
1.00
2
Immune system adaptation during gender-affirming testosterone treatment.
PMID: 39232147
Nature · 2024
0.90
3
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
PMID: 32521132
N Engl J Med · 2020
0.80
4
SARDH in the 1-C metabolism sculpts the T-cell fate and serves as a potential cancer therapeutic target.
PMID: 40830700
Cell Mol Immunol · 2025
0.70
5
TMEFF2 and SARDH cooperate to modulate one-carbon metabolism and invasion of prostate cancer cells.
PMID: 23824605
Prostate · 2013
0.60