What the heck is NGLY1 and why is Mark2Cure targeting it in the next campaign?

NGLY1 is the gene encoding for Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (PNGase) AKA N-glycanase 1.

A deficiency in this enzyme can disrupt protein quality control mechanisms in the cell, which as we’ve seen in the BioGPS Gene-of-the-week on BAG6 is very important. Learn more NGLY1 deficiency from this video created by the Grace Wilsey Foundation:

 
This post was originally written for Mark2Cure and can be viewed in its entirety here.

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