ELISA/assay

Human Fukutin-related protein, FKRP ELISA Kit

MBS9319861

48-Strip-Wells

435 USD

ELISA Kit

Human Fukutin-related protein, FKRP ELISA Kit

fukutin related protein

Human Fukutin-related protein (FKRP) ELISA kit; FLJ12576; LGMD2I; MDC1C; MGC2991; fukutin-related protein; fukutin related protein

fukutin-related protein; Fukutin-related protein; fukutin-related protein; fukutin related protein

FKRP

FKRP; FKRP; MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5

FKRP_HUMAN

Human

Store all reagents at 2-8 degree C

89941475

NP_001034974.1

NM_001039885.2

Q9H9S5

54,568 Da

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]

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

48-Strip-Wells

435 USD

96-Strip-Wells

600