Reactive species
Human;Mouse;Rat
Protein name
Transcription factor 4/12
Immunogen
The antiserum was produced against synthesized peptide derived from human TCF4/12. AA range:581-630
Specificity
TCF-4/12 Monoclonal Antibody detects endogenous levels of TCF-4/12 protein.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Monoclonal, Mouse,IgG
Dilution rate
WB: 1/500 - 1/2000
Purification process
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
Other name
TCF4; BHLHB19; ITF2; SEF2; Transcription factor 4; TCF-4; Class B basic helix-loop-helix protein 19; bHLHb19; Immunoglobulin transcription factor 2; ITF-2; SL3-3 enhancer factor 2; SEF-2; TCF12; BHLHB20; HEB; HTF4; Transcription factor 12;
Background
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016],
Function
disease:Defects in TCF4 are a cause of Pitt-Hopkins syndrome (PTHS) [MIM:610954].,disease:Haploinsufficiency of TCF4 is a cause of Pitt-Hopkins syndrome (PTHS) [MIM:610954]. PTHS is a rare syndromic encephalopathy characterized by severe psychomotor delay, epilepsy, daily bouts of diurnal hyperventilation starting in infancy, mild postnatal growth retardation, postnatal microcephaly, and distinctive facial features. Since most hitherto reported cases have been sporadic, with males and females equally affected, PTHS is regarded as an autosomal dominant condition.,function:Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.,sequence caution:Incomplete and probable erro
