methyltransferase WBSCR22; Williams-Beuren syndrome chromosomal region 22 protein; HUSSY-3; PP3381 (WBSCR22)
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Function
- methyltransferase that may act on DNA
Structure
- belongs to the methyltransferase superfamily
Compartment
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