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Different proteins for different disorders - from what you wrote it seems like you read it as one particular protein that's commonly implicated in many different disorders?

Imagine one part of your car was randomly the wrong shape. You'd have Twisted Wheel-Nut Syndrome or Split Spark-Plug Disease or whatever, all of which could be caused by badly copied blueprints for the car.



Sorry I wasn't clear. I am currently looking at info on NGLY1 and trying to parse out its exact function in order to try to understand the commonalities this seems to have with my condition. "Lacks x enzyme" doesn't give me a picture of what functions are missing. I am not a medical professional. I need laymen's explanations of specific functionality, which are quite hard to come by.

Thanks for replying.


N-Glycanase is responsible for removing N-linked glycans from misfolded glycoproteins.


Thanks for answering. Is that absolutely the only thing it does? Because I am getting the vague impression the miscoded protein has some other functions as well.


it's certainly possible that it has other functions.

There are many, many, many proteins for which we are discovering new functions each day or for which we know of no known function in cells.




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