Here, we demonstrated that there were limited effects on binding affinity between Oxr1 and the selected pathogenic Gpi1 mutations, although the shortest Oxr1-C isoform interacted with greater affinity to the L339P mutant, a substitution that causes anaemia with neuromuscular involvement when combined with a second H20P mutant GPI allele [30]. The gene discussed is PIGQ; the disease is anemia.