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Williams Beuren Syndrome Chromosome Region 28 (WBSCR28)

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Williams Beuren Syndrome Chromosome Region 28 (WBSCR28)
CCC N490
HGNC 23018
MGI 1923879
PubMed 17624924
RGD 1561903
UniProt Q6UE05
Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.
By searching EST databases for sequences mapping to the region of chromosome 7 deleted in Williams-Beuren syndrome (WBS), Micale et al. (2008) identified and cloned WBSCR28. They also identified the mouse Wbscr28 gene. Northern blot analysis of several mouse tissues detected Wbscr28 expression in testis only.Micale et al. (2008) mapped the WBSCR28 gene to chromosome 7q11.23 within the interval deleted in WBS.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) CLIA Kit Customized Service Offer
n/a ELISA Kit for Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) CLIA Kit Customized Service Offer
n/a ELISA Kit for Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) CLIA Kit Customized Service Offer
n/a ELISA Kit for Williams Beuren Syndrome Chromosome Region 28 (WBSCR28) ELISA Kit Customized Service Offer
  1. "Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase."Eur. J. Hum. Genet. 16:1038-1049(2008) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
  3. "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]