This gene 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.
Categories
Primary Antibodies
Clonality
polyclonal
Description
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).
Host
Rabbit
Immunogen
EF-hand domain (C-terminal) containing 1
Isotype
IgG
Molecular Weight
74 kDa
Reactivity
Human, Mouse, Rat
Regulatory
RUO
Synonyms
dJ304B14.2
Uniprot
Q5JVL4
Gene Id
114327
Research Area
Signal Transduction, Neuroscience
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)