disease:Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]. WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.,function:Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Binds DNA as a heterodimer with TCFL4/MLX.,tissue specificity:Expressed in liver, heart, kidney, cerebellum and intestinal tissues.,
Nucleus.
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
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