GENETIC ENCYCLOPEDIA
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gene: AOC1

id26
symbolAOC1
organismHomo sapiens
full nameamine oxidase copper containing 1
summaryThis gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
variant-disease

GRCh37/hg19 7q36.1(chr7:150553475-150572382)x1 AND not provided

GRCh37/hg19 7q36.1(chr7:150553475-150560322)x1 AND not provided

GRCh37/hg19 7q36.1(chr7:150548972-150562451)x1 AND not provided

GRCh37/hg19 7q36.1(chr7:150553475-150562451)x1 AND not provided

GRCh37/hg19 7q36.1(chr7:150553475-150592741)x1 AND not provided

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