|Other Names||Carbohydrate-responsive element-binding protein, ChREBP, Class D basic helix-loop-helix protein 14, bHLHd14, MLX interactor, MLX-interacting protein-like, WS basic-helix-loop-helix leucine zipper protein, WS-bHLH, Williams-Beuren syndrome chromosomal region 14 protein, MLXIPL, BHLHD14, MIO, WBSCR14|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||BHLHD14, MIO, WBSCR14|
|Function||Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity).|
|Tissue Location||Expressed in liver, heart, kidney, cerebellum and intestinal tissues|
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This gene encodes a basic helix-loop-helix leucine zippertranscription factor of the Myc/Max/Mad superfamily. This proteinforms a heterodimeric complex and binds and activates, in aglucose-dependent manner, carbohydrate response element (ChoRE)motifs in the promoters of triglyceride synthesis genes. The geneis deleted in Williams-Beuren syndrome, a multisystem developmentaldisorder caused by the deletion of contiguous genes at chromosome7q11.23.
Hu, M., et al. Pharmacogenet. Genomics 20(10):634-637(2010)Johansen, C.T., et al. Nat. Genet. 42(8):684-687(2010)Keebler, M.E., et al. Circ Cardiovasc Genet 3(4):358-364(2010)Chidambaram, M., et al. Metab. Clin. Exp. (2010) In press :Reynolds, C.A., et al. Hum. Mol. Genet. 19(10):2068-2078(2010)
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