Full name: DNA methyltransferase 1

Gene type: protein coding

RefSeq status: REVIEWED

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

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. [provided by RefSeq, Jan 2016]

Expression: Broad expression in placenta (RPKM 28.0), lymph node (RPKM 23.6) and 24 other tissues

Gene size: 61608bp

Exon count: 41