TMEM251, a new player in lysosomal enzyme trafficking

Abstract

In recent studies published in Science and Nature Communications, three independent groups identified TMEM251, one transmembrane protein in Golgi, is an indispensable factor for lysosomal enzyme trafficking. Loss or mutation of TMEM251 results in hypersecretion of lysosomal enzymes due to lack of mannose-6-phosphate (M6P) modification, leading to lysosomal dysfunction and eventually lysosome storage disorders (LSDs).