MPO Chromosome 17

Myeloperoxidase
17 variants 16 Health Risk 1 Protective

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What This Gene Does
Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Heme peroxidase family
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000005381
Associated Conditions (7)
MPO-related disorder
Myeloperoxidase deficiency
Alzheimer disease type 1
Acute myeloid leukemia
Lung cancer
protection against
in smokers
Key Variants
All Variants (17)
RSID Category Clinical Significance Conditions
RS149133270 Health Risk Conflicting classifications of pathogenicity MPO-related disorder, MPO-related disorder
RS28730837 Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS778013714 Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, Alzheimer disease type 1, Myeloperoxidase deficiency
RS78950939 Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, Alzheimer disease type 1, Myeloperoxidase deficiency
RS1555607599 Health Risk Likely pathogenic
RS1970491995 Health Risk Likely pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS762526880 Health Risk Likely pathogenic Myeloperoxidase deficiency, Alzheimer disease type 1, Acute myeloid leukemia
RS762933005 Health Risk Likely pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS773478778 Health Risk Likely pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS119469012 Health Risk Pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS119469013 Health Risk Pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS181494077 Health Risk Pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS119468010 Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, Alzheimer disease type 1, MPO-related disorder
RS119469014 Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, MPO-related disorder, Myeloperoxidase deficiency
RS536522394 Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, MPO-related disorder, Myeloperoxidase deficiency
RS754632893 Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, MPO-related disorder, Myeloperoxidase deficiency
RS2333227 Protective protective; risk factor Lung cancer, protection against, in smokers
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