Anatomy and Cell Biology 4429A Lecture Notes - Lecture 2: Elastin, Cystic Fibrosis, Collagen
12 Jan 2018
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Otherwise you could end up with proteins that aggregate and loses its function and stability. These can eventually cause cellular damage further down the pathway. What happens if proteins contain mutations, have inappropriate posttranslational modifications, or fold into unstable structures: loss of function, gain of function, accumulation, aggregation. 5 main categories of protein folding diseases: unable to fold (mutations, translation error, etc. ) Inactive protein (loss of function: the protein is unable to fold. This is a chloride transporter in epithelial cells, primarily in the lungs and pancreas. Water does not move very well because the osmotic gradient is not strong enough. Mucous requires water to reach the right consistency, and achieve the right properties. So water needs to be moved into the side of the mucous, and to maintain the electric/charge gradient, na+ follows it as well. The presence of this sequence is very common in transporter proteins and pumps. There is a carbohydrate in one of the extracellular loops.
