DNMT1
LOCUS ID1786
GENE_SYMBOLDNMT1
GENE NAMED (cytosine-5-)-methyltransferase 1
SYNONYMNSAIM, DNMT, MCMT, CXXC9, HSN1E, ADCADN
CHROMOSOME19
HOMOLOGENE ID124071
microRNAsNANA
GENE SUMMARY
This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic D. This protein is the major enzyme responsible for maintaining methylation patterns following D replication and shows a preference for hemi-methylated D. Methylation of D 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 rcolepsy, and neuropathy, hereditary sensory, type IE. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. expressions of UHRF1 and DNMT1 were increased in DN patients.26049093