Revision as of 12:54, 12 January 2019 by imported>Matthew J. Copley IV(I added one comma in the first sentence, directly before the phrase "in humans", and I also added one comma at the end of this same phrase. This classifies the phrase "in humans" as being a non-restrictive appositive.)
The B3GNT1gene encodes a β-1,4-glucuronyltransferase, designated B4GAT1, that transfers glucuronic acid towards both α- and β-anomers of xylose[3]. B4GAT1 is the priming enzyme for LARGE, a dual-activity glycosyltransferase that is capable of extending products of B4GAT1. Thus, B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated α-dystroglycan that is lacking in secondary dystroglycanopathies.
Misidentification
The B3GNT1 gene was first reported to encode a member of the beta-1,3-N-acetylglucosaminyltransferase family and thought to be responsible for the synthesis of poly-N-acetyllactosamine[1], a determinant for the blood group i antigen. Thus, it was also known as iGNT.
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