FKTN blocking peptide
FKTN Antibody (Center) Blocking peptide
NCBI and Uniprot Product Information
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: Endoplasmic reticulum; EC 2.-.-.-; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: 9q31.2
Cellular Component: cis-Golgi network; endoplasmic reticulum; extracellular space; Golgi apparatus; nucleus
Biological Process: muscle development; negative regulation of cell proliferation; negative regulation of JNK cascade; nervous system development; protein amino acid O-linked mannosylation
Disease: Cardiomyopathy, Dilated, 1x; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 4
Research Articles on FKTN
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Product Notes
The FKTN fktn (Catalog #AAA9219401) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "FKTN, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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