rs113203253

This variant is located in the MPO gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters2 publications

not provided; Myeloperoxidase deficiency;Alzheimer disease type 1; MPO-related disorder

About MPO

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]

View all MPO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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