Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 is an enzyme that in humans is encoded by the WBSCR17 gene .[ 5] [ 6] [ 7]
GALNT17 Identifiers Aliases GALNT17 External IDs OMIM : 615137 ; MGI : 2137594 ; HomoloGene : 49707 ; GeneCards : GALNT17 ; OMA :GALNT17 - orthologs RNA expression patternBgee Human Mouse (ortholog)Top expressed in trigeminal ganglion spinal ganglia cerebellar vermis prefrontal cortex right hemisphere of cerebellum right frontal lobe Brodmann area 9 apex of heart cingulate gyrus anterior cingulate cortex
Top expressed in trigeminal ganglion hippocampus proper dentate gyrus of hippocampal formation granule cell spinal ganglia visual cortex primary visual cortex cerebellar cortex ganglionic eminence basal forebrain striatum of neuraxis
More reference expression data
BioGPS
Wikidata
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]
^ 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" .
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