Human Gene FKTN (ENST00000602661.5) Description and Page Index
Description: Homo sapiens fukutin (FKTN), transcript variant 10, mRNA. (from RefSeq NM_001351502) RefSeq Summary (NM_001079802): 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]. Gencode Transcript: ENST00000602661.5 Gencode Gene: ENSG00000106692.14 Transcript (Including UTRs) Position: hg38 chr9:105,558,130-105,636,238 Size: 78,109 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr9:105,575,033-105,635,264 Size: 60,232 Coding Exon Count: 9
ID:FKTN_HUMAN DESCRIPTION: RecName: Full=Fukutin; EC=2.-.-.-; AltName: Full=Fukuyama-type congenital muscular dystrophy protein; FUNCTION: 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. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). 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. DISEASE: Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]; 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. DISEASE: Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]. 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. DISEASE: Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]. 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. 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. SIMILARITY: Belongs to the LicD transferase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKTN"; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75072
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.