|Other Names||EF-hand domain-containing protein 1, Myoclonin-1, EFHC1|
|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||Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).|
|Cellular Location||Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle|
|Tissue Location||Widely expressed. Not detected in lymphocytes.|
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EFHC1 encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described.
Bai, D., et al. Epilepsia 50(5):1184-1190(2009)Suzuki, T., et al. Hum. Mol. Genet. 18(6):1099-1109(2009)Murai, M.J., et al. Arch. Biochem. Biophys. 477(1):131-138(2008)
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