rs141055426
This is a variant in the EPX gene that changes a aspartate to an asparagine.
▶ClinVar annotation
About EPX
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]
View all EPX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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