Rabbit anti-Human FKTN / Fukutin Polyclonal Antibody | anti-FKTN antibody

Rabbit Polyclonal to Human FKTN / Fukutin

Cat. Num. AAA247217

• Gene Names: FKTN; FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
• Reactivity: Human
• Applications: Immunohistochemistry, Immunocytochemistry, Immunofluorescence, Western Blot
• Purity: Immunoaffinity Purified
• Synonyms: FKTN / Fukutin; Polyclonal Antibody; Rabbit Polyclonal to Human FKTN / Fukutin; Anti-FKTN / Fukutin Antibody IHC-plus; FKTN; CMD1X; FCMD; MDDGB4; MDDGA4; Patient fukutin; Fukutin; LGMD2M; MDDGC4; Human FKTN; anti-FKTN antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Specificity: Human Fukutin. Predicted cross-reactivity based on amino acid sequence homology: mouse (90%), rat (91%).
• Purity/Purification: Immunoaffinity Purified
• Form/Format: 0.1 M Tris-glycine, pH 7, 10% Glycerol, 0.01% Thimerosal
• Concentration: 1 mg/ml (varies by lot)
• Sequence Length: 461

• Applicable Applications for anti-FKTN antibody: Immunohistochemistry (IHC - Paraffin), Immunocytochemistry (ICC), Immunofluorescence (IF), Western Blot (WB)
• Application Notes: ICC (1:100 - 1:200), IF (1:100 - 1:200), IHC-P (10 ug/ml), WB (1:500 - 1:3000)
• Target Species: Human
• Immunogen Description: Recombinant protein fragment containing a sequence corresponding to a region within amino acids 272 and 456 of Fukutin.
• Immunogen Type: Recombinant protein
• Immunogen: FKTN / Fukutin antibody was raised against recombinant protein fragment containing a sequence corresponding to a region within amino acids 272 and 456 of Fukutin.
• Preparation and Storage: Aliquot and store at -20 degree C. Minimize freezing and thawing.

Immunohistochemistry (IHC)

(Anti-FKTN / Fukutin antibody IHC of human placenta. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 10 ug/ml.)

Immunohistochemistry (IHC)

(Anti-FKTN / Fukutin antibody IHC of human skeletal muscle. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 10 ug/ml.)

Immunofluorescence (IF)

(Immunofluorescence of methanol-fixed HeLa, using Fukutin antibody at 1:200 dilution.)

Western Blot (WB)

(Sample (30 ug of whole cell lysate). A: H1299. B: Hela. 10% SDS PAGE. FKTN antibody diluted at 1:1000.)

Related Product Information for anti-FKTN antibody

The protein encoded by this gene 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.

NCBI and Uniprot Product Information

• NCBI GI #: 119395712
• NCBI GeneID: 2218
• NCBI Accession #: NP_001073270.1
• NCBI GenBank Nucleotide #: NM_001079802.1
• UniProt Accession #: O75072; Q3MIJ1; Q96TE1; Q9P295; B4DUX9; J3KP13
• Molecular Weight: 49,832 Da
• NCBI Official Full Name: fukutin isoform a
• NCBI Official Synonym Full Names: fukutin
• NCBI Official Symbol: FKTN
• NCBI Official Synonym Symbols: FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
• NCBI Protein Information: fukutin; patient fukutin; Fukuyama type congenital muscular dystrophy protein
• UniProt Protein Name: Fukutin
• Protein Family: Fukutin
• UniProt Gene Name: FKTN
• UniProt Synonym Gene Names: FCMD
• UniProt Entry Name: FKTN_HUMAN

NCBI Description

The protein encoded by this gene 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). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

Uniprot Description

FCMD: May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4); also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital without mental retardation type B4 (MDDGB4). An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI in some cases, and absence of mental retardation. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C4 (MDDGC4). MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids. Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X); also called dilated cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the LicD transferase family.

Protein type: EC 2.-.-.-; Transferase; Membrane protein, integral; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 9q31.2

Cellular Component: Golgi membrane; Golgi apparatus; extracellular space; cis-Golgi network; endoplasmic reticulum; integral to membrane; nucleus

Molecular Function: transferase activity

Biological Process: negative regulation of cell proliferation; nervous system development; negative regulation of JNK cascade; muscle development; protein amino acid O-linked mannosylation; regulation of protein amino acid glycosylation

Disease: Cardiomyopathy, Dilated, 1x; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 4; Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1