Recombinant Human Dystrophin protein (ab114197)

Overview

  • Product nameRecombinant Human Dystrophin protein
  • Protein lengthFull length protein

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceMREQLKGHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKA LCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNL VNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYL FKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQ FANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKE CPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGED VRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPV DSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDE HLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENR NLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQH KGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSL QRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFP SSRGHNVGSLFHMADDLGRAMESLVSVMTDEEGAE
    • Molecular weight96 kDa including tags
    • Amino acids1 to 635

Specifications

Our Abpromise guarantee covers the use of ab114197 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 µg/µl.
    Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • BMD
    • CMD3B
    • DMD
    • DMD_HUMAN
    • Duchenne muscular dystrophy protein
    • Dystrophin
    • Muscular dystrophy Duchenne and Becker types
    see all
  • FunctionAnchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.
  • Tissue specificityExpressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Isoform 5 is expressed in heart, brain, liver, testis and hepatoma cells. Most tissues contain transcripts of multiple isoforms, however only isoform 5 is detected in heart and liver.
  • Involvement in diseaseDefects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:310200]. DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
    Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:300376]. BMD resembles DMD in hereditary and clinical features but is later in onset and more benign.
    Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]; also known as X-linked dilated cardiomyopathy (XLCM). 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.
  • Sequence similaritiesContains 2 CH (calponin-homology) domains.
    Contains 22 spectrin repeats.
    Contains 1 WW domain.
    Contains 1 ZZ-type zinc finger.
  • Cellular localizationCell membrane > sarcolemma. Cytoplasm > cytoskeleton.
  • Information by UniProt

Recombinant Human Dystrophin protein images

  • 12.5% SDS-PAGE showing ab114197 at approximately 95.96kDa stained with Coomassie Blue.

References for Recombinant Human Dystrophin protein (ab114197)

ab114197 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab114197.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"