Fig. 8: A model showing TMEM251/GCAF is required for the cleavage and activation of GNPT α/β precursor.
From: GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway
TMEM251/GCAF deficiency leads to defects in M6P modification of lysosomal enzymes at the cis-Golgi. Lysosomal enzymes without M6P are targeted to the secretory pathway, resulting in lysosome dysfunction.
