AOC1 Chromosome 7

Amine oxidase copper containing 1
1 variant 1 Health Risk

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What This Gene Does
This 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]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS200005221 Health Risk Conflicting classifications of pathogenicity
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