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Protein-coding gene in the species Homo sapiens
GALNT17 Identifiers Aliases GALNT17 External IDs OMIM : 615137 MGI : 2137594 HomoloGene : 49707 GeneCards : GALNT17 Wikidata
Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene .[5] [6] [7]
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.[7]
References [ edit ]
^ a b c GRCh38: Ensembl release 89: ENSG00000185274 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034040 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet . 110 (5): 429–38. doi :10.1007/s00439-002-0710-x . PMID 12073013 . S2CID 29964959 . ^ Nakamura N, Toba S, Hirai M, Morishita S, Mikami T, Konishi M, Itoh N, Kurosaka A (Mar 2005). "Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene" . Biological and Pharmaceutical Bulletin 28 (3): 429–33. doi :10.1248/bpb.28.429 PMID 15744064 . ^ a b "Entrez Gene: WBSCR17 Williams-Beuren syndrome chromosome region 17" .
Further reading [ edit ]
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology" . Science . 300 (5620): 767–72. Bibcode :2003Sci...300..767S . doi :10.1126/science.1083423 . PMC 2882961 PMID 12690205 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Valero MC, de Luis O, Cruces J, Pérez Jurado LA (2001). "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. doi :10.1006/geno.2000.6312 . PMID 11013070 . Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF) . Nature . 377 (6547 Suppl): 3–174. PMID 7566098 .
