Human EPX Knockout Cell Line - MOLM-13

The EPX gene is located on human chromosome 17 and encodes eosinophil peroxidase (EPO), which is primarily expressed in eosinophils, a type of immune cell. Eosinophil peroxidase is a heme-containing enzyme that belongs to the class of oxidoreductases. Structurally, human eosinophil peroxidase consists of heavy and light chains formed by proteolytic processing of a precursor polypeptide. The enzyme contains an active site in which the heme cofactor is covalently attached. It has significant similarities to other peroxidases such as myeloperoxidase (MPO), lactoperoxidase (LPO), and thyroid peroxidase (TPO). Its primary function is to catalyze the formation of hypohalous acid from hydrogen peroxide (H2O2) and halide ions, which is essential for the antimicrobial activity of the immune system.

Mutations in the EPX gene can lead to eosinophil peroxidase deficiency. Notably, at least three mutations have been identified that cause this deficiency. Despite the important role that eosinophil peroxidase plays in immune function, individuals with eosinophil peroxidase deficiency do not usually display any obvious health problems. These gene mutations may result in the complete absence of eosinophil peroxidase production or the production of a nonfunctional enzyme. As a result, the eosinophils of affected individuals may be small and structurally abnormal, but their overall function remains largely intact due to the presence of other functional proteins within the cell.