Length: 3, Mass Da : , It is useful for tracking sequence updates. The algorithm is described in the ISO standard. Checksum: i A6D63F Checksum: i DAD4F. Length: 2, Note: Produced by alternative splicing of isoform 4. Length: 1, Checksum: i 61FF4E Note: Produced by alternative splicing of isoform 6. Checksum: i D0BFD Length: Checksum: i DB8DF9.
Mass Da : 70, Note: Produced by alternative splicing of isoform Mass Da : 68, Mass Da : 72, Mass Da : 59, Mass Da : 39, BMC Med. Nucleic Acids Res. EMBO J. Full view. Enhydra lutris kenyoni. Agassiz's desert tortoise. Pundamilia nyererei. Monterrey platyfish. These are stable identifiers and should be used to cite UniProtKB entries.
Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary citable accession number'. Do not show this banner again.
Calcium , Metal-binding , Zinc. Pathway Commons web resource for biological pathway data More PathwayCommons i. Reactome - a knowledgebase of biological pathways and processes More Reactome i. SignaLink: a signaling pathway resource with multi-layered regulatory networks More SignaLink i. Transport Classification Database More TCDB i. Recommended name: Dystrophin. Homo sapiens Human. This is known as the 'taxonomic identifier' or 'taxid'.
It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first. Human Gene Nomenclature Database More HGNC i. MIM i. VEuPathDB i. Missing in DMD. Missing in BMD. DisGeNET i. GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. GeneReviews i. MalaCards human disease database More MalaCards i. Open Targets More OpenTargets i. Orphanet; a database dedicated to information on rare diseases and orphan drugs More Orphanet i.
Cell junction, synapse, postsynaptic cell membrane. Localizes to neuromuscular junctions NMJs. Compartment Confidence plasma membrane 5 cytoskeleton 5 nucleus 5 cytosol 5 extracellular 3 mitochondrion 2 endoplasmic reticulum 2 lysosome 2 peroxisome 1 endosome 1 golgi apparatus 1.
Arrhythmogenic Right Ventricular Cardiomyopathy. Striated Muscle Contraction. Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Extracellular matrix organization. Muscle contraction. Browse compounds at ApexBio. This gene is overexpressed in Muscle - Skeletal x6. This gene is overexpressed in Heart Show more. Protein tissue co-expression partners for DMD Gene. Tissue specificity: Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma.
Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Nervous system 4.
Germ Layers: ectoderm endoderm mesoderm. Systems: cardiovascular digestive integumentary nervous reproductive respiratory skeletal muscle skeleton urinary. Regions: Head and neck: brain cerebellum cheek chin cranial nerve ear eye eyelid face forehead head jaw lip mandible maxilla mouth nose outer ear salivary gland skull tooth. Thorax: diaphragm heart heart valve lung rib rib cage. Hugnot, J. Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a kDa protein widely distributed in non-muscle tissues.
A kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other non-muscle tissues. Thummel, C. Spatial and temporal patterns of E74 transcription during drosophila development.
Cell 61 , — Karim, F. Genes Dev. Shermoen, A. Progression of the cell cycle through mitosis leads to abortion of nascent transcripts. Cell 67 , — Blau, H. Evidence for defective myoblasts in Duchenne muscular dystrophy. Adv Exp. Medicine Bio. Nevins, J. Cell 15 , — Ford, J. Weber, J. Order of polyadenylic acid addition and splicing events In early adenovirus mRNA formation.
Galli, G. Beyer, A. LeMaire, M. Splicing precedes polyadenylatlon during drosophila E74A transcription. Bauren, G. Splicing of Balbiani ring 1 gene pre-mRNA occurs simultaneously with transcription. Cell 76 , — Zeevi, M. Nuclear RNA is spliced in the absence of poly A addition. Cell 26 , 39—46 Abei, M.
Precision and orderliness in splicing. Trend Genet. Article Google Scholar. More than 30 mutations in the DMD gene can cause an X-linked form of familial dilated cardiomyopathy. This heart condition enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. Although dilated cardiomyopathy is a sign of Duchenne and Becker muscular dystrophy described above , X-linked dilated cardiomyopathy is typically not associated with weakness and wasting of skeletal muscles.
The mutations that cause X-linked dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of X-linked dilated cardiomyopathy.
The mutations that cause X-linked dilated cardiomyopathy often lead to reduced amounts of dystrophin in skeletal muscle cells. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.
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