Williams-Beuren syndrome chromosomal region 16 protein; RCC1-like G exchanging factor-like protein (WBSCR16)

Structure

contains 6 RCC1 repeats

Expression

ubiquitous

Pathology

• WBSCR16 locus in the Williams-Beuren syndrome critical region
• haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome

More general terms

• other protein

Additional terms

• Williams-Beuren syndrome; Williams syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=81554
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:81554
• OMIM: https://mirror.omim.org/entry/194050
• UniProt: http://www.uniprot.org/uniprot/Q96I51.html