儲存: -15°C to -25°C/1 year(Do not lower than -25°C)
克隆性: Monoclonal
克隆號: PT0821R
特異性: Endogenous
基因名稱: DMD
蛋白名稱: Dystrophin
Organism-1: Human
基因ID-1: 1756
SwissProt-1: P11532
Organism-2: Mouse
SwissProt-2: P11531
Organism-3: Rat
SwissProt-3: P11530
背景: dystrophin(DMD) Homo sapiens The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as enc
細胞定位: Cell membrane, sarcolemma ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm, cytoskeleton . Cell junction, synapse, postsynaptic cell membrane . In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. .
儲存: -15°C to -25°C/1 year(Do not lower than -25°C)
克隆性: Monoclonal
克隆號: PT0821R
特異性: Endogenous
基因名稱: DMD
蛋白名稱: Dystrophin
Organism-1: Human
基因ID-1: 1756
SwissProt-1: P11532
Organism-2: Mouse
SwissProt-2: P11531
Organism-3: Rat
SwissProt-3: P11530
背景: dystrophin(DMD) Homo sapiens The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as enc
細胞定位: Cell membrane, sarcolemma ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm, cytoskeleton . Cell junction, synapse, postsynaptic cell membrane . In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. .
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