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- Table of Contents
Facts about EF-hand domain-containing protein 1.
Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (By similarity). May enhance calcium influx through CACNA1E and stimulate programmed cell death.
Mouse | |
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Gene Name: | Efhc1 |
Uniprot: | Q9D9T8 |
Entrez: | 71877 |
Belongs to: |
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No superfamily |
dJ304B14.2; EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; EJA1; EJM1; FLJ10466; FLJ37290; JAE; myoclonin-1
Mass (kDA):
75.142 kDA
Mouse | |
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Location: | 1|1 A4 |
Sequence: | 1; |
PMID: 15258581 by Suzuki T., et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy.
PMID: 15670853 by Ikeda T., et al. The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.