Reactive species
Human; Mouse;Rat
Gene Name
MLXIPL BHLHD14 MIO WBSCR14
Immunogen
Synthesized peptide derived from human MLXPL AA range: 303-353
Specificity
This antibody detects endogenous levels of MLXPL at Human/Mouse/Rat
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Monoclonal, Mouse,IgG
Dilution rate
WB 1:500-2000
Purification process
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
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. [provided by RefSeq, Dec 2015],
Function
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.,
