The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Uncharacterized methyltransferase WBSCR22
Williams Beuren candidate region putative methyltransferase
Williams Beuren syndrome chromosome region 22 protein
Williams-Beuren syndrome chromosomal region 22 protein
Methyltransferase that may act on DNA.
Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis.
Involvement in disease
Note=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.