Mouse anti-Human FKRP Monoclonal Antibody | anti-FKRP antibody

FKRP, CT (FKRP, Fukutin-related protein) (PE)

Cat. Num. AAA6121673

• Gene Names: FKRP; MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein G Affinity Chromatography
• Synonyms: FKRP; Monoclonal Antibody; CT (FKRP; Fukutin-related protein) (PE); Fukutin-related protein; anti-FKRP antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG1
• Clone Number: 386CT13.1.9
• Purity/Purification: Purified by Protein G Affinity Chromatography
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-FKRP antibody: FLISA, Western Blot (WB)
• Application Notes: FLISA: 1:1,000; WB: 1:100; Applications are based on unconjugated antibody.
• Immunogen: FKRP Mab is generated from mice immunized with a KLH conjugated synthetic peptide selected from the C-term region of human FKRP.
• Conjugate: PE
• Special Handling: Light sensitive
• Preparation and Storage: May be stored at 4 degree C for short-term only. For long-term storage, store. Aliquots are stable for at least 6 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer. Do not freeze R-Phycoerythrin conjugates. Light sensitive.

Western Blot (WB)

(FKRP Antibody (C-term) western blot analysis in HL-60 cell line lysates (35ug/lane).This demonstrates the FKRP antibody detected the FKRP protein (arrow).)

Related Product Information for anti-FKRP antibody

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq].

Product Categories/Family for anti-FKRP antibody

Antibodies; Transcription Factors

References

Kawahara, G., et al. Hum. Mol. Genet. 19(4):623-633(2010) Crowther-Swanepoel, D., et al. Nat. Genet. 42(2):132-136(2010) Lu, P.J., et al. Biochim. Biophys. Acta 1802(2):253-258(2010) Hanisch, F., et al. J. Neurol. 257(2):300-301(2010) Bourteel, H., et al. J. Neurol. Neurosurg. Psychiatr. 80(12):1405-1408(2009)

NCBI and Uniprot Product Information

• NCBI GI #: 89941475
• NCBI GeneID: 79147
• NCBI Accession #: NP_001034974.1
• NCBI GenBank Nucleotide #: NM_001039885.2
• UniProt Accession #: Q9H9S5; A8K5G7
• Molecular Weight: 54,568 Da
• NCBI Official Full Name: fukutin-related protein
• NCBI Official Synonym Full Names: fukutin related protein
• NCBI Official Symbol: FKRP
• NCBI Official Synonym Symbols: MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5
• NCBI Protein Information: fukutin-related protein
• UniProt Protein Name: Fukutin-related protein
• Protein Family: Fukutin-related protein
• UniProt Gene Name: FKRP
• UniProt Entry Name: FKRP_HUMAN

NCBI Description

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]

Uniprot Description

FKRP: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1). Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5). MDDGA5 is 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. Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5). MDDGB5 is a congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, a secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of MDDGB5 patients have brain involvements. Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C5 (MDDGC5); also known as limb-girdle muscular dystrophy type 2I. MDDGC5 is an autosomal recessive disorder with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. Belongs to the LicD transferase family.

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

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: Golgi membrane; dystrophin-associated glycoprotein complex; Golgi apparatus; extracellular space; rough endoplasmic reticulum; integral to membrane; sarcolemma

Molecular Function: transferase activity

Biological Process: protein amino acid O-linked mannosylation; protein processing

Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 5; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 5; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1