The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 34 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionMethyltransferase that may act on DNA.
Tissue specificityStrongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis.
Involvement in diseaseNote=WBSCR22 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. Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Sequence similaritiesBelongs to the methyltransferase superfamily.