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Mouse Anti-EFHC1 Recombinant Antibody (CBFYE-0035) (V2LY-0425-LY1490)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYE-0035
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
EFHC1 (aa270-378) partial recombinant protein.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal Antibody

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
None
Concentration
Batch dependent
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
EF-Hand Domain Containing 1
Entrez Gene ID
114327
UniProt ID
Q5JVL4
Research Area
Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826).

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).
Biological Process
Cerebral cortex cell migration Source: UniProtKB
Cilium-dependent cell motility Source: GO_Central
Mitotic cytokinesis Source: UniProtKB
Mitotic spindle organization Source: UniProtKB
Regulation of cell division Source: UniProtKB
Cellular Location
Centrosome; Spindle; Spindle pole
Involvement in disease
Juvenile myoclonic epilepsy 1 (EJM1):
A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Juvenile absence epilepsy 1 (JAE1):
A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
Mutation Leu-229 may be a cause of intractable epilepsy of infancy. Affected individuals have seizures of multiple type, manifested as tonic, clonic, and myoclonic seizures in the neonatal period, and as tonic seizures activated frequently by sleep, and repeated frequent myoclonic seizures in later infancy. The seizures are unresponsive to numerous antiepileptic drugs, and infants die in the first years of life. Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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