EF-hand domain-containing protein 1

Definition:

Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (By similarity).

References:

[1]. Toshimitsu Suzuki, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004 Aug;36(8):842-9. [Content Brief]

[2]. Praveen K Raju, et al. Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. Hum Mutat. 2017 Jul;38(7):816-826. [Content Brief]

[3]. Laurence de Nijs, et al. EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci. 2009 Oct;12(10):1266-74. [Content Brief]

[4]. Laurence de Nijs, et al. Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet. 2012 Dec 1;21(23):5106-17. [Content Brief]

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