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MPO

Synonyms
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External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
45
Likely pathogenic
25
VUS
2,918
Likely benign
1,118
Benign
54

Patient phenotypes

Proportions of phenotypes among 70 patients carrying pathogenic or likely pathogenic variants on MPO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the eye
34.3%
Abnormality of the musculoskeletal system
30%
Abnormality of the integument
21.4%
Abnormality of limbs
20%
Abnormality of head or neck
18.6%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
12.9%
Abnormality of the immune system
12.9%
Growth abnormality
10%
Abnormality of the digestive system
8.6%
Abnormality of the genitourinary system
5.7%
Abnormality of blood and blood-forming tissues
4.3%
Constitutional symptom
4.3%
Abnormality of the respiratory system
2.9%
Abnormality of the voice
2.9%
Abnormal cellular phenotype
1.4%
Abnormality of the breast
1.4%
Abnormality of the endocrine system
1.4%
Neoplasm
1.4%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%

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