Goat LARGE Polyclonal Antibody | anti-LARGE antibody

Goat anti-LARGE (aa421-433) Antibody

Cat. Num. AAA422346

• Gene Names: LARGE; MDC1D; MDDGA6; MDDGB6
• Reactivity: Tested: Human; Expected from sequence similarity: Human, Dog, Cow
• Applications: ELISA, Western Blot
• Purity: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Synonyms: LARGE; Polyclonal Antibody; Goat anti-LARGE (aa421-433) Antibody; Goat Anti-LARGE (N-terminus) Antibody; like-glycosyltransferase; KIAA0609; MDC1D; acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; like-acetylglucosaminyltransferase; acetylglucosaminyltransferase-like 1A antibody; acetylglucosaminyltransferase-like protein antibody; KIAA0609 antibody; like-acetylglucosaminyltransferase antibody; like-glycosyltransferase antibody; MDC1D antibody; LARGE antibody; LARGE (aa421-433); anti-LARGE antibody

• Host: Goat
• Reactivity: Tested: Human; Expected from sequence similarity: Human, Dog, Cow
• Clonality: Polyclonal
• Purity/Purification: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Form/Format: Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
• Concentration: 100ug specific antibody in 200ul (varies by lot)
• Sequence: SEADVNSENLQKQ
• Sequence Length: 756

• Applicable Applications for anti-LARGE antibody: Peptide ELISA (EIA), Western Blot (WB)
• Application Notes: Peptide ELISA: Antibody detection limit dilution 1: 2000.; Western Blot: Approx 75kDa band observed in Human Kidney, and Heart lysates (calculated MW of 88.1kDa according to NP_004728.1). Recommended concentration: 1-3ug/ml.
• Immunogen: Peptide with sequence C-SEADVNSENLQKQ, from the internal region of the protein sequence according to NP_004728.1.
• Epitope: Internal region
• Note: Reported variants represent identical protein: NP_004728.1, NP_598397.1
• Preparation and Storage: Aliquot and store at -20 degree C. Minimize freezing and thawing.

Western Blot (WB)

((1ug/ml) staining of Human Kidney lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)

NCBI and Uniprot Product Information

• NCBI GI #: 4758664
• NCBI GeneID: 9215
• NCBI Accession #: NP_004728.1
• NCBI GenBank Nucleotide #: NM_004737.4
• Molecular Weight: 81,846 Da
• NCBI Official Full Name: glycosyltransferase-like protein LARGE1
• NCBI Official Synonym Full Names: like-glycosyltransferase
• NCBI Official Symbol: LARGE
• NCBI Official Synonym Symbols: MDC1D; MDDGA6; MDDGB6
• NCBI Protein Information: glycosyltransferase-like protein LARGE1
• UniProt Protein Name: Glycosyltransferase-like protein LARGE1
• Protein Family: Large T antigen
• UniProt Gene Name: LARGE
• UniProt Synonym Gene Names: KIAA0609; LARGE1
• UniProt Entry Name: LARGE_HUMAN

NCBI Description

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

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