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WBSCR17

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene.{{cite journal | vauthors = Merla G, Ucla C, Guipponi M, Reymond A | title = Identification of additional transcripts in the Williams-Beuren syndrome critical region | journal = Hum Genet | volume = 110 | issue = 5 | pages = 429–38 |date=Jun 2002 | pmid = 12073013 | doi = 10.1007/s00439-002-0710-x | s2cid = 29964959 }}{{cite journal | vauthors = Nakamura N, Toba S, Hirai M, Morishita S, Mikami T, Konishi M, Itoh N, Kurosaka A | title = Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene |journal=Biological and Pharmaceutical Bulletin | volume = 28 | issue = 3 | pages = 429–33 |date=Mar 2005 | pmid = 15744064 | doi =10.1248/bpb.28.429 | doi-access = free }}{{cite web | title = Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64409}}

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.{{cite web | title = Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64409}}

References

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Further reading

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  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 | pmc=2882961 |bibcode=2003Sci...300..767S }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal | vauthors=Valero MC, de Luis O, Cruces J, Pérez Jurado LA |title=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). |journal=Genomics |volume=69 |issue= 1 |pages= 1–13 |year= 2001 |pmid= 11013070 |doi= 10.1006/geno.2000.6312 }}
  • {{cite journal |vauthors=Adams MD, Kerlavage AR, Fleischmann RD, etal |title=Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. |journal=Nature |volume=377 |issue= 6547 Suppl |pages= 3–174 |year= 1995 |pmid= 7566098 |url=http://www.columbia.edu/itc/biology/pollack/w4065/client_edit/readings/nature377_3.pdf }}

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