FKTN Antibody

Datasheet
Code CSB-PA008709GA01HU
Product Type Purified Rabbit Anti human PolyClonal Antibody
Size US$685
Uniprot No. O75072
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunogen Human FKTN
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Tested Applications ELISA,WB,IHC
Storage Buffer PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Purification Method Antigen Affinity purified
Isotype IgG
Alias fukutin;FKTN;CMD1X;FCMD;LGMD2M;MGC126857;MGC134944;MGC134945;MGC138243 ;
Immunogen Species Homo sapiens (Human)
Target Names FKTN
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Target Details This protein is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Two transcript variants encoding the same protein have been found for this gene.
HGNC 3622
RGD 1310087
MGI 2179507
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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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