WBSCR17 explained
Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene.[1] [2] [3]
This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.[4]
Further reading
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
- Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
- Scherer SW, Cheung J, MacDonald JR, etal . Human chromosome 7: DNA sequence and biology. . Science . 300 . 5620 . 767–72 . 2003 . 12690205 . 10.1126/science.1083423 . 2882961 . 2003Sci...300..767S .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Valero MC, de Luis O, Cruces J, Pérez Jurado LA . Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). . Genomics . 69 . 1 . 1–13 . 2001 . 11013070 . 10.1006/geno.2000.6312 .
- Adams MD, Kerlavage AR, Fleischmann RD, etal . Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. . Nature . 377 . 6547 Suppl . 3–174 . 1995 . 7566098 .
Notes and References
- Merla G, Ucla C, Guipponi M, Reymond A . Identification of additional transcripts in the Williams-Beuren syndrome critical region . Hum Genet . 110 . 5 . 429–38 . Jun 2002 . 12073013 . 10.1007/s00439-002-0710-x . 29964959 .
- Nakamura N, Toba S, Hirai M, Morishita S, Mikami T, Konishi M, Itoh N, Kurosaka A . Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene . . 28 . 3 . 429–33 . Mar 2005 . 15744064 . 10.1248/bpb.28.429 . free .
- Web site: Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17.
- Web site: Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17.
