PRMT7

Molecular characteristics

The PRMT7 gene is located on chromosome 16 and encodes a protein arginine N-methyltransferase. This is an essential enzyme for DNA repair, RNA processing, signal transduction, and subcellular protein localization and interactions. Different types of mutations have been identified (missense, splicing, stopgain, frameshift, and intragenic deletions and duplication). As a result, there is a loss of the normal function of the methyltransferase activity which leads to the main clinical features observed in PRMT7-related syndrome.