TWIST1
GeneName
TWIST1
Summary
TWIST1, also known as TWIST, T18, or Twist-1, is a 21 kDa basic helix-loop-helix (bHLH) transcription factor that plays a crucial role in various developmental processes. It is primarily expressed in the nucleus and nucleoplasm, where it binds to specific DNA sequences to regulate gene expression. TWIST1 is involved in processes such as aortic valve morphogenesis, cardiac neural crest cell migration, and embryonic development, including limb and cranial morphogenesis. Additionally, it has functions in regulating cellular responses to hypoxia and apoptosis, as well as influencing cell proliferation and migration through its interaction with histone deacetylases and other transcriptional regulators.
Importance
TWIST1 is relevant to: - Developmental biology, particularly in understanding congenital heart defects and morphogenetic processes. - Cancer research, as it is implicated in epithelial-to-mesenchymal transition (EMT), a key event in cancer metastasis. - Regenerative medicine, due to its role in cellular differentiation and tissue development. - Studies of hypoxia and its effects on cellular behaviour, which are important in various pathological conditions.
Top Products
For researchers investigating TWIST1, we recommend two primary antibodies that excel in performance. The first is the well-cited Anti-Twist antibody [Twist2C1a] (ab50887), a monoclonal antibody that has garnered 286 citations, highlighting its reliability in Western blotting (WB) and immunocytochemistry (ICC). This antibody is a trusted choice for those looking to study TWIST1 in detail. Additionally, we offer the recombinant antibody, Anti-Twist Antibody [RP23040206] (ab313483), which also supports WB and ICC applications. While it is a newer product with no citations yet, its recombinant nature ensures batch-to-batch consistency, making it an excellent option for researchers seeking dependable results in their experiments.
Abcam Product Citation Summary
The data indicates that TWIST1 is frequently studied in the context of cancer, particularly in relation to epithelial-mesenchymal transition (EMT), tumour growth, and metastasis. Various human cancer cell lines and tissues are used to explore the role of TWIST1 in these processes, highlighting its significance as a potential biomarker and therapeutic target in oncology.
Abcam Product Citation Table
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 pro-inflammatory 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-BMAL1 heterodimer (By similarity).
Involvement in disease
Saethre-Chotzen syndrome
SCS
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
None
The disease is caused by variants affecting the gene represented in this entry.
Robinow-Sorauf syndrome
RSS
An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.
None
The disease is caused by variants affecting the gene represented in this entry.
Craniosynostosis 1
CRS1
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sweeney-Cox syndrome
SWCOS
An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Subset of mesodermal cells.
Cellular localization
- Nucleus
Alternative names
BHLHA38, TWIST, TWIST1, Twist-related protein 1, Class A basic helix-loop-helix protein 38, H-twist, bHLHa38