FKTN Antibody

Code CSB-PA008709XA01HU
Product Type Polyclonal Antibody
Uniprot No. O75072
Delivery Make-to-order
Protocols ELISA Protocol
Immunogen Recombinant Homo sapiens (Human) FKTN protein
Raised in Rabbit
Species Reactivity Homo sapiens (Human)
Tested Applications ELISA, WB (ensure identification of antigen)
Form Liquid
Conjugate Non-conjugated
Storage Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Purification Method Protein A/G
Isotype IgG
Clonality Polyclonal
Alias Fukutin (EC 2.-.-.-) (Fukuyama-type congenital muscular dystrophy protein) FKTN FCMD
Immunogen Species Homo sapiens (Human)
Gene 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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