Product Information
Molecular Weight71308/72965 DaObserved Band:60 KD
Protein NameTranscription factor 4/12
Human Gene Id6925/6938
Human Swiss Prot NoP15884/Q99081
Mouse Gene Id21413/21406
Rat Gene Id84382/25720
Rat Swiss Prot NoQ62655/P51514
SpecificityTCF-4/12 Polyclonal Antibody detects endogenous levels of TCF-4/12 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameTCF4; 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;
Functiondisease: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
Subcellular LocationNucleus .
ExpressionExpressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.
Backgroundtranscription factor 4(TCF4) Homo sapiens 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],