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Article

A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.

The Journal of clinical investigation - 15 Jun 1998

DeLeo F R, Goedken M, McCormick S J, Nauseef W M

Abstract excerpt

Myeloperoxidase (MPO) deficiency is a common inherited disorder linked to increased susceptibility to infection and malignancy. We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins. Although the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9637725
DOI: 10.1172/JCI2649
PMCID: PMC508882

Genes

MPO

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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