Gene: N6AMT1

Alternate names for this Gene: C21orf127|HEMK2|KMT9|MTQ2|N6AMT|PRED28|PrmC|m.HsaHemK2P

Gene Summary: This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.3

Description of this Gene: N-6 adenine-specific DNA methyltransferase 1

Type of Gene: protein-coding

rs73186036 in N6AMT1 gene and Alanine aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2409317 in N6AMT1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs56923832 in N6AMT1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1997606 in N6AMT1 gene and Glomerular Filtration Rate PMID 30920136 2019 The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population.

rs11700980 in N6AMT1 gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs73186036 in N6AMT1 gene and Serum Alanine Aminotransferase Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.