A HhaI Polymorphism in the Human MEP1A Gene Encoding the Alpha Subunit of the Metalloendopeptidase Meprin

Abstract

Meprins are membrane-bound oligomeric metalloendopeptidases belonging to the astacin protein family. The meprin isolated from human small intestinal mucosa was originally known as N-benzoyl-L-tyrosyl-p-aminobenzoic acid (PABA peptide) hydrolase (PPH). Here we describe the first genetic marker for the human MEP1A gene encoding the α subunit of this enzyme. The polymorphism changes codon 176 of the mature α chain of PPH from CAA to CAG. Using the polymerase chain reaction, this variation is easily detectable as a Hhal restriction fragment length polymorphism. The two alleles are both common, probably in all major races.