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I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within cells.
I-cell disease is associated with various clinical features that affect physical appearance, organ function, and growth development. The severity of these symptoms varies between individuals, though the prognosis is poor due to the disease’s systemic nature. I-Cell Disease patients may also experience impaired cognitive and motor development.
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 ...
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.
Lipid A is an endotoxin and so loss of MsbA from the cell membrane or mutations that disrupt transport results in the accumulation of lipid A in the inner cell membrane resulting to cell death. It is a close bacterial homolog of P-glycoprotein (Pgp) by protein sequence homology and has overlapping substrate specificities with the MDR-ABC ...
Active transport is usually associated with accumulating high concentrations of molecules that the cell needs, such as ions, glucose and amino acids. Examples of active transport include the uptake of glucose in the intestines in humans and the uptake of mineral ions into root hair cells of plants.
In cellular biology, membrane transport refers to the collection of mechanisms that regulate the passage of solutes such as ions and small molecules through biological membranes, which are lipid bilayers that contain proteins embedded in them. The regulation of passage through the membrane is due to selective membrane permeability – a ...
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.