EPX Chromosome 17

Eosinophil peroxidase
3 variants 3 Trait

Upload your DNA to see your personal genotypes for variants in EPX.

What This Gene Does
This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Heme peroxidase family
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000121053
Associated Conditions (1)
Eosinophil peroxidase deficiency
All Variants (3)
RSID Category Clinical Significance Conditions
RS121434566 Trait Affects Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency
RS141055426 Trait Affects Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency
RS397518446 Trait Affects Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency
Sign Up to Analyze Your DNA Log In