Rabbit anti-Human Twist Polyclonal Antibody

Uniprot Id

Q15672

Target Species

Human

Target Name

TWIST1

Target Full Name

Twist-related protein 1

Target Function

Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer.

Target Involvement

Saethre-Chotzen syndrome (SCS); Robinow-Sorauf syndrome (RSS); Craniosynostosis 1 (CRS1)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Subset of mesodermal cells.

Target Synonyms

ACS3; B-HLH DNA binding protein; bHLHa38; BPES2; BPES3; Class A basic helix-loop-helix protein 38; CRS; CRS1; CSO; H-twist; OTTHUMP00000116043; SCS; Twist basic helix loop helix transcription factor 1; Twist family bHLH transcription factor 1; Twist homolog 1 (Drosophila); Twist homolog 1; TWIST homolog of drosophila; Twist related protein 1; Twist-related protein 1; TWIST1; TWST1_HUMAN

Target Background

This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism.