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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHDH
choline dehydrogenase
Chromosome 3 · 3p21.1
NCBI Gene: 55349Ensembl: ENSG00000016391.12HGNC: HGNC:24288UniProt: Q8NE62
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial inner membranemitochondrionmitochondrial outer membranehypertensionIncreased blood pressurecardiovascular diseaserefractive error
✦AI Summary

CHDH (choline dehydrogenase) is a mitochondrial transmembrane enzyme that catalyzes the oxidation of choline to betaine, serving as a key regulator of choline metabolism 1. The enzyme plays critical roles in cellular processes by producing betaine, which functions as both an important methyl donor and organic osmolyte 2. CHDH demonstrates tissue-specific and temporally regulated activity, as evidenced by its transient activation during mouse oocyte meiotic maturation, where it enables autonomous betaine synthesis essential for egg development 3. The enzyme is involved in mitochondrial autophagy following mitochondrial damage and is crucial for maintaining mitochondrial integrity 1. CHDH dysfunction has significant clinical implications, particularly in male fertility where deletion results in diminished sperm motility due to abnormal mitochondrial morphology and reduced ATP content 2. Genetic polymorphisms in CHDH are associated with various conditions including reduced sperm concentration, tooth agenesis risk, and bipolar disorder susceptibility 456. Additionally, CHDH expression is elevated in breast cancer tissues and promotes metastasis through IL17RB/CREB1 signaling activation, suggesting its potential as a diagnostic marker and therapeutic target in metabolic disorders and cancer progression 71.

Sources cited
1
CHDH is a mitochondrial transmembrane enzyme that catalyzes choline to betaine oxidation and is involved in mitochondrial autophagy
PMID: 37600654
2
CHDH produces betaine as methyl donor and osmolyte; deletion causes diminished sperm motility and abnormal mitochondrial morphology
PMID: 20371614
3
CHDH shows transient activation during mouse oocyte meiotic maturation enabling autonomous betaine synthesis
PMID: 28663368
4
CHDH polymorphisms are associated with sperm concentration
PMID: 22387881
5
CHDH polymorphisms are associated with tooth agenesis risk
PMID: 21308979
6
CHDH variants show association with bipolar disorder susceptibility
PMID: 27562178
7
CHDH is elevated in breast cancer and promotes metastasis through IL17RB/CREB1 signaling
PMID: 40928004
Disease Associationsⓘ20
hypertensionOpen Targets
0.49Moderate
Increased blood pressureOpen Targets
0.41Moderate
cardiovascular diseaseOpen Targets
0.40Moderate
refractive errorOpen Targets
0.37Weak
response to xenobiotic stimulusOpen Targets
0.36Weak
oropharynx cancerOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.31Weak
substance-related disorderOpen Targets
0.25Weak
essential hypertensionOpen Targets
0.14Weak
injuryOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SELENOIProtein interaction96%PTDSS2Protein interaction96%MBOAT2Protein interaction94%BHMTProtein interaction93%PLD1Protein interaction93%PLD2Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Brain
9%
Heart
6%
Lung
4%
Bone Marrow
4%
Ovary
4%
Gene Interaction Network
Click a node to explore
CHDHSELENOIPTDSS2MBOAT2BHMTPLD1PLD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NE62
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.65–1.09]
RankingsWhere CHDH stands among ~20K protein-coding genes
  • #10,752of 20,598
    Most Researched36
  • #11,131of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedCHDH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
PMID: 32048886
Autophagy · 2021
1.00
2
Polymorphisms in CHDH gene and the risk of tooth agenesis.
PMID: 21308979
Birth Defects Res A Clin Mol Teratol · 2011
0.90
3
CHDH, a key mitochondrial enzyme, plays a diagnostic role in metabolic disorders diseases and tumor progression.
PMID: 37600654
Front Genet · 2023
0.80
4
CHDH Promotes Breast Cancer Metastasis Relying on IL17RB/CREB1 Signalling Activation.
PMID: 40928004
J Cell Mol Med · 2025
0.70
5
Betaine is accumulated via transient choline dehydrogenase activation during mouse oocyte meiotic maturation.
PMID: 28663368
J Biol Chem · 2017
0.60