Gene: DNMT1

Alternate names for this Gene: ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaI

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: DNA methyltransferase 1

Type of Gene: protein-coding

rs11085720 in DNMT1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs78333947 in DNMT1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397509391 in DNMT1 gene and CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT PMID 22328086 2012 Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds.

PMID 22328086 2012 Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds.

PMID 22328086 2012 Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

rs199473690 in DNMT1 gene and Hereditary Sensory and Autonomic Neuropathy Type Ie PMID 21532572 2011 Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.