FSHD Region Gene 1 (FRG1)
The FRG1 gene detected a transcript of 1.1 kb on Northern blot analysis of adult muscle and lymphocytes and of fetal brain, muscle, and placenta. DNA sequence analysis did not reveal any homology to known genes. The FRG1 gene was found to be evolutionarily conserved and to have related sequences on multiple human chromosomes. FRG1 is a nuclear protein and several lines of evidence suggest it is involved in pre-mRNA splicing.
Van Deutekom et al. (1996) identified a polymorphism in exon 1 of this gene and used RT-PCR to amplify reverse transcribed mRNA from lymphocytes and muscle biopsies of patients and controls. These studies indicated that both alleles were transcribed and gave no evidence of position effect variegation leading to repression of allelic transcription.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant FSHD Region Gene 1 (FRG1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to FSHD Region Gene 1 (FRG1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to FSHD Region Gene 1 (FRG1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for FSHD Region Gene 1 (FRG1) CLIA Kit Customized Service Offer
n/a ELISA Kit for FSHD Region Gene 1 (FRG1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant FSHD Region Gene 1 (FRG1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to FSHD Region Gene 1 (FRG1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to FSHD Region Gene 1 (FRG1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for FSHD Region Gene 1 (FRG1) CLIA Kit Customized Service Offer
n/a ELISA Kit for FSHD Region Gene 1 (FRG1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant FSHD Region Gene 1 (FRG1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to FSHD Region Gene 1 (FRG1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to FSHD Region Gene 1 (FRG1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for FSHD Region Gene 1 (FRG1) CLIA Kit Customized Service Offer
n/a ELISA Kit for FSHD Region Gene 1 (FRG1) ELISA Kit Customized Service Offer
  1. "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35."Hum. Mol. Genet. 5:581-590(1996) [PubMed] [Europe PMC] [Abstract]
  2. "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements."Genomics 61:55-65(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [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. "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis."RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract]
  6. "FRG1P is localised in the nucleolus, Cajal bodies, and speckles."J. Med. Genet. 41:E46-E46(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1."Nature 439:973-977(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein."Differentiation 81:107-118(2011) [PubMed] [Europe PMC] [Abstract]
  10. "Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein."J. Mol. Biol. 411:397-416(2011) [PubMed] [Europe PMC] [Abstract]
  11. "FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis."J. Mol. Cell Biol. 5:294-307(2013) [PubMed] [Europe PMC] [Abstract]