Recombinant Human Glycosyltransferase-like protein LARGE1(LARGE)

Code CSB-CF012749HU
Product Type Transmembrane Protein
Size Pls inquiry other sizes
Uniprot No. O95461
Storage Buffer Tris-based buffer,50% glycerol
Species Homo sapiens (Human)
Source in vitro E.coli expression system
Gene Names LARGE1
Protein Names Recommended name: Glycosyltransferase-like protein LARGE1 EC= 2.4.-.- Alternative name(s): Acetylglucosaminyltransferase-like 1A
Expression Region 1-756
Tag Info N-terminal 10xHis-tagged
Protein Description full length protein
Storage Store at -20°C, for extended storage, conserve at -20°C or -80°C.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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Function Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1)
Involvement in disease Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6); Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)
Subcellular Location Golgi apparatus membrane, Single-pass type II membrane protein
Protein Families Glycosyltransferase 49 family; Glycosyltransferase 8 family
Tissue Specificity Ubiquitous. Highest expression in heart, brain and skeletal muscle.
Database Links

HGNC: 6511

OMIM: 603590

KEGG: hsa:9215

STRING: 9606.ENSP00000347088

UniGene: Hs.474667

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