Human fukutin related protein ELISA Kit | FKRP elisa kit
Human Fukutin-related protein, FKRP ELISA Kit
NCBI and Uniprot Product Information
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: Transferase; Membrane protein, integral; EC 2.-.-.-
Chromosomal Location of Human Ortholog: 19q13.32
Cellular Component: dystrophin-associated glycoprotein complex; Golgi membrane; 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
Research Articles on FKRP
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Product Notes
The Human FKRP fkrp (Catalog #AAA9319861) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9319861 ELISA Kit recognizes Human FKRP. It is sometimes possible for the material contained within the vial of "fukutin related protein, ELISA Kit" 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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