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gene: NAT1

id9
symbolNAT1
organismHomo sapiens
full nameN-acetyltransferase 1
summaryThis gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
variant-disease

GRCh37/hg19 8p22(chr8:17969434-18071907)x1 AND not provided

GRCh37/hg19 8p22(chr8:18076731-18110249)x3 AND not provided

NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) AND NAT1*17 ALLELE

NM_000662.8(NAT1):c.190C>T (p.Arg64Trp) AND not specified

NAT1*10 ALLELE AND NAT1*10 ALLELE

... 73 more


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