Protein Überblick

This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein.

Genbezeichner und Symbole assoziert mit LARGE

• LARGE xylosyl- and glucuronyltransferase 1 L homeolog (large1.L) Antikörper
• LARGE xylosyl- and glucuronyltransferase 1 (LARGE1) Antikörper
• LARGE xylosyl- and glucuronyltransferase 1 (Large1) Antikörper
• LARGE xylosyl- and glucuronyltransferase 1 (large1) Antikörper
• glycosyltransferase-like protein LARGE1 (LOC100118066) Antikörper
• Alle Gen-Bezeichnungen
• like-glycosyltransferase (LARGE) Antikörper
• like-glycosyltransferase (Large) Antikörper

• BPFD36 Antikörper
• DKFZp459G0120 Antikörper
• enr Antikörper
• fg Antikörper
• froggy Antikörper
• Alle Synonyme
• Gyltl1a Antikörper
• gyltl1b Antikörper
• gyltl1b-b Antikörper
• Mbp-1 Antikörper
• Mbp1 Antikörper
• MDC1D Antikörper
• MDDGA6 Antikörper
• MDDGB6 Antikörper
• mKIAA0609 Antikörper
• myd Antikörper
• NV15834 Antikörper

Bezeichner auf Proteinebene für LARGE

glycosyltransferase-like 1B , glycosyltransferase-like 1B-B , glycosyltransferase-like protein LARGE2-B , acetylglucosaminyltransferase-like 1A , acetylglucosaminyltransferase-like protein , glycosyltransferase-like protein LARGE1 , like-acetylglucosaminyltransferase , myodystrophy , glycosyltransferase-like 1A , like-glycosyltransferase , glycosyltransferase-like protein LARGE1-like , eosinophil granule major basic protein 1 , prepro major basic protein 1