DMD(Texas Red)/CENXp(FITC) FISH Probe
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Specification
Product Description
Made to order FISH probes for identification of gene amplification using Fluorescent In Situ Hybridization Technique. (Technology).
Origin
Human
Source
Genomic DNA
Reactivity
Human
Notice
We strongly recommend the customer to use FFPE FISH PreTreatment Kit 1 (Catalog #: KA2375 or KA2691) for the pretreatment of Formalin-Fixed Paraffin-Embedded (FFPE) tissue sections.
Regulation Status
For research use only (RUO)
Supplied Product
DAPI Counterstain (1500 ng/mL ) 250 uL
Storage Instruction
Store at 4°C in the dark.
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Applications
Fluorescent In Situ Hybridization (Cell)
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Gene Info — DMD
Entrez GeneID
1756Gene Name
DMD
Gene Alias
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Gene Description
dystrophin
Gene Ontology
HyperlinkGene Summary
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 encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq
Other Designations
Duchenne muscular dystrophy protein|OTTHUMP00000023117|OTTHUMP00000023124|OTTHUMP00000023125|OTTHUMP00000023126|muscular dystrophy, Duchenne and Becker types
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Interactome
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Pathway
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Disease
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