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.

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s