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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 assess...

Topics

Amino Acid Sequence
Biological Transport
Cysteine Endopeptidases
Endoplasmic Reticulum
Genetic Linkage
Humans
Molecular Sequence Data
Multienzyme Complexes
Mutation
Peroxidase
Proteasome Endopeptidase Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9637725
DOI: 10.1172/JCI2649
PMCID: PMC508882

Genes

MPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9637725-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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