FKTN Antibody, Biotin conjugated

Datasheet
Code CSB-PA008709LD01HU
Size US$299
Uniprot No. O75072
Protocols ELISA Protocol
Immunogen Recombinant Human Fukutin protein (87-276AA)
Raised in Rabbit
Species Reactivity Human
Tested Applications ELISA
Relevance Glycosyltransferase 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), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.
Form Liquid
Conjugate Biotin
Storage Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Purification Method >95%, Protein G purified
Isotype IgG
Clonality Polyclonal
Alias Fukutin (EC 2.-.-.-) (Fukuyama-type congenital muscular dystrophy protein), FKTN, FCMD
Immunogen Species Homo sapiens (Human)
Research Area Tags & Cell Markers
Target Names FKTN
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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Function Glycosyltransferase 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), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.
Involvement in disease Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4); Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4); Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4); Cardiomyopathy, dilated 1X (CMD1X)
Subcellular Location Golgi apparatus membrane, Single-pass type II membrane protein
Protein Families LicD transferase family
Tissue Specificity Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons,
Database Links

HGNC: 3622

OMIM: 253800

KEGG: hsa:2218

STRING: 9606.ENSP00000223528

UniGene: Hs.55777

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