Human Glycosyltransferase-like protein LARGE1 ELISA Kit | LARGE elisa kit

Human Glycosyltransferase-like protein LARGE1 (LARGE) ELISA Kit

Cat. Num. AAA281249

• Gene Names: LARGE1; LARGE; MDC1D; MDDGA6; MDDGB6
• Reactivity: Human
• Synonyms: Glycosyltransferase-like protein LARGE1; Human Glycosyltransferase-like protein LARGE1 (LARGE) ELISA Kit; LARGE elisa kit

• Reactivity: Human
• Specificity: This assay has high sensitivity and excellent specificity for detection of Human LARGE. No significant cross-reactivity or interference between Human LARGE and analogues was observed.
• Sequence Length: 756

• Samples: Serum, Plasma, Other biological fluids
• Assay Type: Sandwich
• Sample Volume: 1-200 uL
• Precision: Intra-assay Precision (Precision within an assay); Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.; Inter-assay Precision (Precision between assays); Three samples of known concentration were tested in forty separate assays to assess inter-assay precision.; CV (%) = SD/meanX100; Intra-Assay: CV; Inter-Assay: CV
• Detection Wavelength: 450 nm
• Preparation and Storage: Store at 2-8 degree C.

Related Product Information for LARGE elisa kit

Principle of the Assay: This assay employs a two-site sandwich ELISA to quantitate LARGE in samples. An antibody specific for LARGE has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyLARGE present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for LARGE is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of LARGE bound in the initial step. The color development is stopped and the intensity of the color is measured.

NCBI and Uniprot Product Information

• NCBI GI #: 4758664
• NCBI GeneID: 9215
• NCBI Accession #: NP_004728.1
• NCBI GenBank Nucleotide #: NM_004737.5
• UniProt Accession #: O95461; O60348; Q17R80; Q9UGD1; Q9UGE7; Q9UGG3; Q9UGZ8; Q9UH22; B0QXZ7
• Molecular Weight: 81,846 Da
• NCBI Official Full Name: LARGE xylosyl- and glucuronyltransferase 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; glycosyltransferase-like protein LARGE1
• UniProt Protein Name: LARGE xylosyl- and glucuronyltransferase 1
• UniProt Gene Name: LARGE1

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 cognitive disability 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: 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