- Catalog number
- A07880-1
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Myelin transcription factor 1 like is a protein that in humans is encoded by the MYT1L gene. This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants.
- Synonyms
- Fascin-2; Retinal fascin; FSCN2
- Gene Name
- MYT1L
- Gene ID
- 23040
- UniProt
- Q9UL68
- Host
- Rabbit
- Reactivity
- Human
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived human MYT1L recombinant protein (Position: D195-K825) .
- Clonality
- Polyclonal
- Tissue Specificity
- Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
- Applications
- ELISA, IF, ICC, WB, Flow Cytometry
- Field of Research
- Golgi Proteins, Protein Trafficking, Signal Transduction, Vesicle Transport
- 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
- Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
- References & Citations
- 1. Blanchet, P., Bebin, M., Bruet, S., Cooper, G. M., Thompson, M. L., Duban-Bedu, B., Gerard, B., Piton, A., Suckno, S., Deshpande, C., Clowes, V., Vogt, J., Turnpenny, P., Williamson, M. P., Alembik, Y., Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Glasgow, E., McNeill, A. MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genet. 13: e1006957, 2017. Note: Electronic Article. 2. de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A., Vissers, L. E. L. M. Diagnostic exome sequencing in persons with severe intellectual disability. New Eng. J. Med. 367: 1921-1929, 2012. 3. De Rocker, N., Vergult, S., Koolen, D., Jacobs, E., Hoischen, A., Zeesman, S., Bang, B., Bena, F., Bockaert, N., Bongers, E. M., de Ravel, T., Devriendt, K., and 24 others. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet. Med. 17: 460-466, 2015.
- 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.
- Calculated Molecular Weight
- 49229 MW
- Observed Molecular Weight
- 133 kDa
- Applications Notes
- 6
- Gene Name Synonym
- Fascin actin-bundling protein 2, retinal
- Subcellular Location
- Nucleus.
- Protein Name
- Chromaffin granule amine transporter
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.