WBSCR17 gene

Williams-Beuren syndrome chromosome region 17

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

From UniProt:

May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

From UniProt:

WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Cytogenetic Location: 7q11.22, which is the long (q) arm of chromosome 7 at position 11.22

Molecular Location: base pairs 71,132,414 to 71,713,601 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q11.22, which is the long (q) arm of chromosome 7 at position 11.22
  • GalNAc-T5L
  • GALNACT17
  • GALNT16
  • GALNT20
  • GALNTL3