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What is NGLY 1? New Animated Video Explains

November 10, 2014

The Grace Wilsey Foundation released a new animated video today that answers the question, “What exactly IS NGLY 1?”

This unique disease has been making news in the rare disease community, with breakthroughs in diagnostic technology, more and more patients are coming across NGLY 1.

As the foundation explain,s “NGLY1 is 1 of protein coding 20,000 genes that make up the human genome. It’s one of those critical genes that are fundamental for life. It produces an enzyme that in turn degrades a protein. This is an important step that ensures cell stability and health.”

This video gives an overview of the gene’s role and the disease that develops if the gene doesn’t produce the proper amount of enzyme.

 

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