FKTN Antibody – Rabbit Polyclonal

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: EC 2.-.-.-; Transferase; Membrane protein, integral; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 9q31.2

Cellular Component: Golgi membrane; Golgi apparatus; extracellular space; cis-Golgi network; endoplasmic reticulum; integral to membrane; nucleus

Molecular Function: transferase activity

Biological Process: negative regulation of cell proliferation; nervous system development; negative regulation of JNK cascade; muscle development; protein amino acid O-linked mannosylation; regulation of protein amino acid glycosylation

Disease: Cardiomyopathy, Dilated, 1x; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 4; Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1