LARGE Antibody – Rabbit Polyclonal

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]

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