Mouse anti-Human LARGE1 Monoclonal Antibody | anti-LARGE1 antibody

Anti-LARGE1 Purified

Cat. Num. AAA1800856

• Gene Names: LARGE1; LARGE; MDC1D; MDDGA6; MDDGB6
• Reactivity: Human
• Applications: Flow Cytometry, Functional Assay, Western Blot
• Purity: Purified by Protein-A Affinity Chromatography
• Synonyms: LARGE1; Monoclonal Antibody; Anti-LARGE1 Purified; LARGE xylosyl- and glucuronyltransferase 1; Xysosyl- and glucosyl transferase 1; anti-LARGE1 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG2b
• Clone Number: LARGE-02
• Specificity: The mouse monoclonal antibody LARGE-02 recognizes human LARGE1, a glycosyltransferase expressed mainly in the Golgi apparatus. Crossreactivity with LARGE2 was not determined.
• Purity/Purification: Purified by Protein-A Affinity Chromatography
• Form/Format: Phosphate buffered saline (PBS) solution with 15 mM sodium azide
• Concentration: 1 mg/ml (varies by lot)
• Sequence Length: 756

• Applicable Applications for anti-LARGE1 antibody: Flow Cytometry (FC/FACS), Western Blot (WB)
• Application Notes: FC/FACS: QC tested
• Immunogen: Recombinant fragment of human LARGE1 (amino acids 35-142)
• Preparation and Storage: Store at 2-8 degree C.

Related Product Information for anti-LARGE1 antibody

LARGE1 serves as a glycosyltransferase which participates in glycosylation of the muscle membrane protein alpha-dystroglycan. Mutations of LARGE1 lead to hypoglycosylation of alpha-dystroglycan and cause congenital muscular dystrophy (MDC1D) associated with severe mental retardation. Altered alpha-dystroglycan glycosylation may also play a role in cancer, as hypoglycosylation of the protein and loss of laminin binding have been demonstrated in invasive carcinoma cells.

NCBI and Uniprot Product Information

• NCBI GI #: 4758664
• NCBI GeneID: 9215
• NCBI Accession #: NP_004728.1
• NCBI GenBank Nucleotide #: NP_004728.1
• UniProt Accession #: O95461
• NCBI Official Full Name: LARGE xylosyl- and glucuronyltransferase 1 isoform 1
• NCBI Official Synonym Full Names: LARGE xylosyl- and glucuronyltransferase 1
• NCBI Official Symbol: LARGE1
• NCBI Official Synonym Symbols: LARGE; MDC1D; MDDGA6; MDDGB6
• NCBI Protein Information: LARGE xylosyl- and glucuronyltransferase 1
• UniProt Protein Name: LARGE xylosyl- and glucuronyltransferase 1
• Protein Family: LARGE xylosyl- and glucuronyltransferase
• UniProt Gene Name: LARGE1

NCBI Description

This gene 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. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

Uniprot Description

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: EC 2.4.-.-; Membrane protein, integral; Transferase

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 O-linked mannosylation; protein glycosylation; protein O-linked glycosylation; skeletal muscle tissue 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