Recombinant Human Carbohydrate-responsive element-binding protein (MLXIPL), Truncated

Uniprot Id

Q9NP71

Target Species

Human

Target Name

MLXIPL

Target Full Name

Carbohydrate-responsive element-binding protein

Target Function

Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.

Target Involvement

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.

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Expressed in liver, heart, kidney, cerebellum and intestinal tissues.

Target Synonyms

carbohydrate response element binding protein; bHLHd14; Carbohydrate responsive element binding protein; Class D basic helix-loop-helix protein 14; MIO; MLX interacting protein like; Mlx interactor; MLX-interacting protein-like; MLXIPL; MONDOB; WBS14_HUMAN; WBSCR 14; WBSCR14; Williams Beuren syndrome chromosome region 14; Williams Beuren syndrome chromosome region 14 protein; Williams-Beuren syndrome chromosomal region 14 protein; WS basic helix loop helix leucine zipper protein; WS basic-helix-loop-helix leucine zipper protein; WS bHLH; WS-bHLH

Target Background

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants.