Anti-MYT1L Antibody Picoband® fluoro550 Vervoeging

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.

Fascin-2; Retinal fascin; FSCN2

MYT1L

23040

Q9UL68

Human

No cross-reactivity with other proteins.

E.coli-derived human MYT1L recombinant protein (Position: D195-K825) .

Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.

Flow Cytometry

Golgi Proteins, Protein Trafficking, Signal Transduction, Vesicle Transport

Immunogen affinity purified.

Liquid

Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.

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.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

49229 MW

6

Fascin actin-bundling protein 2, retinal

Nucleus.

Chromaffin granule amine transporter

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.