Immunogen
Synthesized peptide derived from human MLXPL AA range: 303-353
Specificity
This antibody detects endogenous levels of MLXPL at Human/Mouse/Rat
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit 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.,
Gene Name
MLXIPL BHLHD14 MIO WBSCR14
Fields
>>Insulin resistance;>>Non-alcoholic fatty liver disease
Human protein sequence Database
Q9NP71
Mouse protein sequence database
Q99MZ3
Rat protein sequence database
Q8VIP2
Cellular localization
Nucleus.
Tissue expression
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
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