rs119469014

This is a variant in the MPO gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic
2 submitters2 publications

MPO-related disorder; Myeloperoxidase deficiency (MPOD)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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