Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
Involvement in disease
Note=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.
Airley RE et al. Role of carbohydrate response element-binding protein (ChREBP) in generating an aerobic metabolic phenotype and in breast cancer progression. Br J Cancer110:715-23 (2014).
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