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These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. [1] There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. [2]
Pages in category "Membrane transport protein disorders" The following 24 pages are in this category, out of 24 total. This list may not reflect recent changes. A.
Intracellular transport is the movement of vesicles and substances within a cell. Intracellular transport is required for maintaining homeostasis within the cell by responding to physiological signals. [1] Proteins synthesized in the cytosol are distributed to their respective organelles, according to their specific amino acid’s sorting ...
In terms of membrane transport the gradient is of interest as it contributes to decreased system entropy in the co-transport of substances against their gradient. One of the most important pumps in animal cells is the sodium potassium pump, that operates through the following mechanism: [9]
In medicine, proteinopathy ([pref. protein]; -pathy [suff. disease]; proteinopathies pl.; proteinopathic adj), or proteopathy, protein conformational disorder, or protein misfolding disease, is a class of diseases in which certain proteins become structurally abnormal, and thereby disrupt the function of cells, tissues and organs of the body.
It can be associated with N-acetylglucosamine-1-phosphate transferase (GNPTA). [6] In a case report, I-cell disease was complicated by severe dilative cardiomyopathy (DCM). [7] Though rare, a deficiency of phosphodiesterase which would cleave GlcNAc from the mannose-6-phosphate tag will also cause I-cell disease. [5]
Exocytosis (/ ˌ ɛ k s oʊ s aɪ ˈ t oʊ s ɪ s / [1] [2]) is a form of active transport and bulk transport in which a cell transports molecules (e.g., neurotransmitters and proteins) out of the cell (exo-+ cytosis). As an active transport mechanism, exocytosis requires the use of energy to transport material.
Transcytosis (also known as cytopempsis) [1] is a type of transcellular transport in which various macromolecules are transported across the interior of a cell.Macromolecules are captured in vesicles on one side of the cell, drawn across the cell, and ejected on the other side.