PEPC (peptidase C) is a serine protease enzyme encoded on human chromosome 1 that exhibits genetic polymorphism detectable through starch gel electrophoresis in red cells and leukocytes 1. The gene is inherited through two codominant alleles at an autosomal locus, with gene frequencies in southwestern Germany showing PEPC*1 = 0.721 and PEPC*6 = 0.276 1. Human PEPC shows chr1 linkage to factor H (HF) and coagulation factor XIIIB (F13B), with lod scores of 5.14 and 3.55 respectively at theta = 0.10 in males, positioning it on chromosome 1 near these clotting-related genes 2. However, the specific biological function of human peptidase C remains poorly characterized in the provided abstracts. Note: The term "PEPC" in plant biology refers to phosphoenolpyruvate carboxylase, an entirely different enzyme crucial for photosynthesis and stress response in plants 34, but this plant enzyme is not the same as the human peptidase C gene discussed here. Clinical significance of human PEPC variants has not been established in the available literature.
No tissue expression data available for this gene.