The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesChIP: Use at an assay dependent dilution.
ICC/IF: 1/100 - 1/500.
IHC-P: Use at an assay dependent dilution.
WB: Use at an assay dependent dilution. Predicted molecular weight: 95 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionTranscriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.
Tissue specificityExpressed in liver, heart, kidney, cerebellum and intestinal tissues.
Involvement in diseaseNote=WBSCR14 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 WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.