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Recombinant Human MBNL1 protein, MYC/DDK-tagged

Cat.No. : MBNL1-524H
Product Overview : Recombinant Human MBNL1, transcript variant 6, fused with MYC/DDK tag at C-terminal was expressed in HEK293.
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Description : This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities.
Source : HEK293
Species : Human
Tag : MYC/DDK
Form : 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
Molecular Mass : 36.8 kDa
Purity : > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration : >50 ug/mL as determined by microplate BCA method
Gene Name : MBNL1 muscleblind-like splicing regulator 1 [ Homo sapiens ]
Official Symbol : MBNL1
Synonyms : MBNL1; muscleblind-like splicing regulator 1; MBNL, muscleblind (Drosophila) like , muscleblind like (Drosophila); muscleblind-like protein 1; EXP; EXP35; EXP40; EXP42; KIAA0428; triplet-expansion RNA-binding protein; MBNL; DKFZp686P06174;
Gene ID : 4154
mRNA Refseq : NM_207296
Protein Refseq : NP_997179
MIM : 606516
UniProt ID : Q9NR56
Chromosome Location : 3q25
Pathway : Adipogenesis, organism-specific biosystem;
Function : RNA binding; double-stranded RNA binding; metal ion binding; nucleic acid binding; protein binding; zinc ion binding;

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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Q&As (7)

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How does MBNL1 contribute to tissue-specific alternative splicing? 12/07/2022

It contributes to tissue-specific splicing patterns, essential for proper development and function of various tissues.

What are the main functions of MBNL1 in RNA processing? 08/21/2022

MBNL1 regulates alternative splicing, polyadenylation, and localization of mRNAs, impacting gene expression.

What is the role of MBNL1 in the development of muscle tissue? 03/19/2022

MBNL1 plays a key role in muscle development and differentiation, influencing muscle-specific gene expression.

How does MBNL1 dysfunction contribute to myotonic dystrophy? 03/28/2021

In myotonic dystrophy, MBNL1 becomes sequestered by toxic RNA repeats, leading to mis-splicing and muscular dysfunction.

How can MBNL1 activity be modulated for therapeutic purposes? 02/25/2020

Therapeutic modulation of MBNL1 is being explored, focusing on releasing MBNL1 from sequestration and correcting mis-splicing in conditions like myotonic dystrophy.

What are the molecular consequences of MBNL1 sequestration in cells? 11/23/2018

Sequestration of MBNL1 results in altered splicing patterns of numerous genes, contributing to cellular dysfunction.

Are there any known post-translational modifications that regulate MBNL1 activity? 11/07/2018

There is limited information on post-translational modifications regulating MBNL1, necessitating further research.

Customer Reviews (3)

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Reviews
03/24/2022

    Excellent product, fast delivery.

    04/28/2020

      Reliable for my research.

      10/29/2019

        Worked perfectly, highly recommend.

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