功能： disease:Defects in FKTN are a cause of Walker-Warburg syndrome (WWS) [MIM:236670]; also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. WWS is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life.,disease:Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; 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.,disease:Defects in FKTN are the cause of congenital muscular dystrophy Fukuyama type (FCMD) [MIM:253800]. FCMD 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. FCMD is a common muscular dystrophy and one of the most prevalent autosomal recessive diseases in Japanese population.,disease:Defects in FKTN are the cause of limb-girdle muscular dystrophy type 2M (LGMD2M) [MIM:611588]. LGMD2M 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. LGMD2M is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids.,function:Unknown. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. Could also be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).,online information:GlycoGene database,similarity:Belongs to the licD transferase family.,tissue specificity:Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus membrane ; Single-pass type II membrane protein . Cytoplasm . Nucleus . In retinal tissue, does not localize with the Golgi apparatus. .
组织表达： Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853).
功能： disease:Defects in FKTN are a cause of Walker-Warburg syndrome (WWS) [MIM:236670]; also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. WWS is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life.,disease:Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; 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.,disease:Defects in FKTN are the cause of congenital muscular dystrophy Fukuyama type (FCMD) [MIM:253800]. FCMD 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. FCMD is a common muscular dystrophy and one of the most prevalent autosomal recessive diseases in Japanese population.,disease:Defects in FKTN are the cause of limb-girdle muscular dystrophy type 2M (LGMD2M) [MIM:611588]. LGMD2M 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. LGMD2M is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids.,function:Unknown. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. Could also be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).,online information:GlycoGene database,similarity:Belongs to the licD transferase family.,tissue specificity:Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus membrane ; Single-pass type II membrane protein . Cytoplasm . Nucleus . In retinal tissue, does not localize with the Golgi apparatus. .
组织表达： Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853).
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