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Muscleblind Like Protein 3 (MBNL3)

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CHCR; MBLX39; MBXL; Cys3His CCG1-required protein; Muscleblind-like X-linked protein; Protein HCHCR

Muscleblind Like Protein 3 (MBNL3)
CCC N539
HGNC 20564
MGI 2444912
PubMed 23660517
UniProt Q9NUK0
Wiki MBNL3
Myotonic dystrophy (DM1) is a complex neuromuscular disorder associated with DNA expansion mutations in 2 different genes. In DM1 a CTG repeat in the 3-prime-untranslated region of DMPK is expanded, whereas in DM2 an intronic CCTG expansion occurs in the gene ZNF9. Transcripts containing expanded repeats form foci in the nuclei of DM1 and DM2 cells. Proteins related to Drosophila muscleblind (MBNL) colocalized with repeat foci in DM1 and DM2 cells.
MBNL and MBLL were expressed in many adult tissues, whereas MBXL was expressed predominantly in the placenta. Green fluorescent protein-tagged versions of MBNL, MBLL, and MBXL colocalized with nuclear foci in DM1 and DM2 cells, suggesting that all 3 proteins may play a role in DM pathophysiology.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Muscleblind Like Protein 3 (MBNL3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Muscleblind Like Protein 3 (MBNL3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Muscleblind Like Protein 3 (MBNL3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Muscleblind Like Protein 3 (MBNL3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Muscleblind Like Protein 3 (MBNL3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Muscleblind Like Protein 3 (MBNL3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Muscleblind Like Protein 3 (MBNL3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Muscleblind Like Protein 3 (MBNL3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Muscleblind Like Protein 3 (MBNL3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Muscleblind Like Protein 3 (MBNL3) ELISA Kit Customized Service Offer
  1. "Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR."Dev. Biol. 250:218-230(2002) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  6. "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells."Hum. Mol. Genet. 11:805-814(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Muscleblind proteins regulate alternative splicing."EMBO J. 23:3103-3112(2004) [PubMed] [Europe PMC] [Abstract]