Speedy Homolog E (SPDYE)
[Edit]Ringo1; SPDYE1; WBSCR19; Williams Beuren Syndrome Chromosome Region 19
WBSCR19 is elevated in copy number in chimp and bonobo and decreased in orangutan, gibbon, macaque, baboon, marmoset, and lemur; and WBSCR21 is elevated in gibbon, macaque, baboon, and marmoset. Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. The characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Speedy Homolog E (SPDYE) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Speedy Homolog E (SPDYE) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Speedy Homolog E (SPDYE) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Speedy Homolog E (SPDYE) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Speedy Homolog E (SPDYE) | ELISA Kit Customized Service Offer |
- "Identification of additional transcripts in the Williams-Beuren syndrome critical region."Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
- "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]