ESPE Abstracts

Protein arginine methyltransferase 7 (PRMT7), a member of a family of enzymes that catalyse the transfer of methyl groups from S-adenosyl-L-methionine to nitrogen atoms on arginine residues, is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 12 patients with homozygous/compound heterozygous mutations in PRMT7 gene have been described defining the ...