Rabbit anti-Mouse FKTN Polyclonal Antibody | anti-FKTN antibody

FKTN, ID (FKTN, FCMD, Fukutin, Fukuyama-type congenital muscular dystrophy protein)

Cat. Num. AAA647593

• Gene Names: FKTN; FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
• Reactivity: Mouse
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: FKTN; Polyclonal Antibody; ID (FKTN; FCMD; Fukutin; Fukuyama-type congenital muscular dystrophy protein); Anti -FKTN; anti-FKTN antibody

• Host: Rabbit
• Reactivity: Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Mouse
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

• Applicable Applications for anti-FKTN antibody: ELISA (EL/EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: Suitable for use in Western Blot, Immunohistochemistry, ELISA; Dilution: ELISA: 1:1,000; Western Blot: 1:100-500; Immunohistochemistry: 1:10-50
• Immunogen: FKTN antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 184-214 amino acids from the Central region of human FKTN.
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(FKTN Antibody (Center) western blot analysis in mouse liver tissue lysates (35ug/lane).This demonstrates the FKTN antibody detected the FKTN protein (arrow).)

Immunohistochemistry (IHC)

(FKTN Antibody (Center) immunohistochemistry analysis in formalin fixed and paraffin embedded human brain tissue followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of FKTN Antibody (Center) for immunohistochemistry. Clinical relevance has not been evaluated.)

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. 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.

Product Categories/Family for anti-FKTN antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 312176389
• NCBI GeneID: 2218
• NCBI Accession #: NP_001185892.1
• NCBI GenBank Nucleotide #: NM_001198963.1
• UniProt Accession #: O75072; Q3MIJ1; Q96TE1; Q9P295; B4DUX9; J3KP13
• Molecular Weight: 53,724 Da
• NCBI Official Full Name: fukutin isoform b
• 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

Function: 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. Ref.8

Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein

By similarity.

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, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region. Ref.7

Involvement in disease: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.12 Ref.13 Ref.18Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]: 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, and absence of mental retardation.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.17 Ref.18Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.15 Ref.19Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.14

Sequence similarities: Belongs to the LicD transferase family.