methyltransferase WBSCR22; Williams-Beuren syndrome chromosomal region 22 protein; HUSSY-3; PP3381 (WBSCR22)

Function

• methyltransferase that may act on DNA

Structure

• belongs to the methyltransferase superfamily

Compartment

nucleus (putative)

Alternative splicing

named isoforms=2

Expression

• highly expressed in heart, skeletal muscle & kidney

also expressed in spleen, liver, lung & testis

Pathology

• WBSCR22 is located in the Williams-Beuren syndrome critical region
• haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in Williams-Beuren syndrome

More general terms

• methyltransferase
• nuclear protein

Additional terms

• HUSSY protein
• Williams-Beuren syndrome; Williams syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=114049
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:114049
• OMIM: https://mirror.omim.org/entry/194050
• UniProt: http://www.uniprot.org/uniprot/O43709.html