Williams-Beuren syndrome chromosomal region 14 protein; 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 (MLXIPL, BHLHD14, MIO, WBSCR14)
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Function
- transcriptional repressor
- binds to the canonical & non-canonical E box sequences 5'-CACGTG-3' (putative)
- phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity (putative)
- binds DNA as a heterodimer with TCFL4/MLX
Structure
contains 1 basic helix-loop-helix (bHLH) domain
Compartment
Alternative splicing
- named isoforms=6
- at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Expression
- expressed in liver, heart, kidney, cerebellum & intestine
Pathology
- WBSCR14 locus in the Williams-Beuren syndrome critical region
- haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome