|Other Names||Dyslexia-associated protein KIAA0319, KIAA0319|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non- cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.|
|Cellular Location||Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein. Note=Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted|
|Tissue Location||Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum|
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The longest isoform encoded by this gene is atransmembrane protein that is both N- and O-glycosylated. Defectsin this gene may cause susceptibility to dyslexia type 2 (DYX2).Multiple transcript variants encoding several different isoformshave been found for this gene.
Lind, P.A., et al. Eur. J. Hum. Genet. 18(6):668-673(2010)Peschansky, V.J., et al. Cereb. Cortex 20(4):884-897(2010)Couto, J.M., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (2), 447-462 (2010) :Couto, J.M., et al. Biol. Psychiatry 66(4):368-375(2009)Levecque, C., et al. Am. J. Physiol., Cell Physiol. 297 (1), C160-C168 (2009) :
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