- Catalog number
- A00980-1
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene. 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.
- Synonyms
- ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; CLPX
- Gene Name
- TWIST1/2
- Gene ID
- 7291/117581
- UniProt
- Q15672/Q8WVJ9
- Host
- Rabbit
- Reactivity
- Human, Mouse, Rat
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- A synthetic peptide corresponding to a sequence in the middle region of human TWIST1/2, identical to the related mouse sequences.
- Clonality
- Polyclonal
- Tissue Specificity
- Higher expression in skeletal muscle and heart and to a lesser extent in liver, brain, placenta, lung, kidney and pancreas.
- Applications
- WB, IHC, Flow Cytometry
- Field of Research
- Cell Biology, Chaperones, Metabolism, Mitochondrial, Mitochondrial Markers, Mitochondrial Metabolism, Pathways and Processes, Protein Trafficking, Proteolysis/Ubiquitin, Proteolytic Enzymes, Signal Transduction
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Function
- ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP. Targets specific substrates for degradation by the Clp complex (PubMed:11923310, PubMed:22710082) . Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure (PubMed:22841477) . ATP- dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis. Important for efficient erythropoiesis through upregulation of heme biosynthesis (PubMed:25957689) .
- References & Citations
- 1. Bialek, P., Kern, B., Yang, X., Schrock, M., Sosic, D., Hong, N., Wu, H., Yu, K., Ornitz, D. M., Olson, E. N., Justice, M. J., Karsenty, G. A Twist code determines the onset of osteoblast differentiation. Dev. Cell 6: 423-435, 2004. 2. Bourgeois, P., Bolcato-Bellemin, A.-L., Danse, J.-M., Bloch-Zupan, A., Yoshiba, K., Stoetzel, C., Perrin-Schmitt, F. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum. Molec. Genet. 7: 945-957, 1998. 3. Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F. The human H-twist gene is located at 7p21 and encodes a b-HLH protein that is 96% similar to its murine M-twist counterpart. Mammalian Genome 7: 915-917, 1996.
- Storage Conditions
- At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.
- Observed Molecular Weight
- 30 kDa
- Applications Notes
- 6
- Gene Name Synonym
- Caseinolytic mitochondrial matrix peptidase chaperone subunit
- Subcellular Location
- Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.