ADCADN

Chr 19

DNA methyltransferase 1

Also known as: ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI

NCBI Gene: 1786

This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

0
ClinVar variants
0
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— ADCADN
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ADCADN?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADCADN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
DNA methyltransferase 1 modulates mitochondrial function through bridging m(5)C RNA methylation.
Wang J et al.·Mol Cell
2025
Congenital diseases with defects in DNA methylation maintenance: focusing on ICF syndrome and multilocus imprinting disturbance.
Unoki M·Genes Genet Syst
2025Review
A systematic review on the contribution of DNA methylation to hearing loss.
Patil V et al.·Clin Epigenetics
2024Review
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.
Postiglione E et al.·J Clin Sleep Med
2020Case report
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK et al.·Brain
2014
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
Kikuchi JK et al.·J Mol Neurosci
2021Review
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.
Davis KN et al.·Hum Mol Genet
2023
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
Kernohan KD et al.·Clin Epigenetics
2016
DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation.
Smets M et al.·Hum Mol Genet
2017Cohort
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Winkelmann J et al.·Hum Mol Genet
2012
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

RECRUITING
NCT01793168Sanford HealthStarted 2010-07

External Resources

Links to major genomics databases and tools