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Alpha-mannosidosis is a lysosomal storage disorder, [1] first described by Swedish physician Okerman in 1967. [2] In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.
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Mannose is a sugar with the formula HOCH 2 (CHOH) 4 CHO.It is one of the monomers of the aldohexose series of carbohydrates.It is a C-2 epimer of glucose.Mannose is important in human metabolism, especially in the glycosylation of certain proteins.
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It can be utilized in experiments that determine the effects of the presence or absence of mannose on specific molecules, such as recombinant proteins that are used in vaccine development. [ 5 ] Pathology
In enzymology, a dolichyl-phosphate-mannose-protein mannosyltransferase (EC 2.4.1.109) is an enzyme that catalyzes the chemical reaction dolichyl phosphate D-mannose + protein ⇌ {\displaystyle \rightleftharpoons } dolichyl phosphate + O-D-mannosylprotein
Mannose-binding lectins, or ficolins, along with pentraxins and collectins are able to recognize certain types of carbohydrates that are expressed on the cell membranes of bacteria, fungi, viruses, and parasites, and can act as opsonin by activating the complement system and phagocytic cells.