NP_004728.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
81,846 Da
NCBI Official Full Name
glycosyltransferase-like protein LARGE1
NCBI Official Synonym Full Names
like-glycosyltransferase
NCBI Protein Information
glycosyltransferase-like protein LARGE1
UniProt Protein Name
Glycosyltransferase-like protein LARGE1
UniProt Synonym Protein Names
Acetylglucosaminyltransferase-like 1AIncluding the following 2 domains:Xylosyltransferase LARGE
UniProt Synonym Gene Names
UniProt Entry Name
LARGE_HUMAN
NCBI Summary for LARGE
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. [provided by RefSeq, Jul 2008]
UniProt Comments for LARGE
LARGE: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit. Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B6 (MDDGB6). A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6); also called muscle-eye-brain disease LARGE- related or Walker-Warburg syndrome LARGE-related. MDDGA6 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Belongs to the glycosyltransferase 8 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Transferase; EC 2.4.-.-
Chromosomal Location of Human Ortholog: 22q12.3
Cellular Component: Golgi apparatus; Golgi membrane; integral to Golgi membrane
Molecular Function: acetylglucosaminyltransferase activity; glucuronosyltransferase activity; manganese ion binding; transferase activity, transferring glycosyl groups; UDP-xylosyltransferase activity; xylosyltransferase activity
Biological Process: glycoprotein biosynthetic process; glycosphingolipid biosynthetic process; muscle maintenance; N-acetylglucosamine metabolic process; protein amino acid glycosylation; protein amino acid O-linked glycosylation; protein amino acid O-linked mannosylation; skeletal muscle regeneration
Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 6; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 6
Research Articles on LARGE
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Products associated with LARGE blocking peptide
Pathways associated with LARGE blocking peptide
Diseases associated with LARGE blocking peptide
Organs/Tissues associated with LARGE blocking peptide
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