Mouse Anti-EFHC1 Recombinant Antibody (CBFYE-0035) (CBMAB-E0067-FY)

Name: Mouse Anti-EFHC1 Recombinant Antibody (CBFYE-0035)
SKU: CBMAB-E0067-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYE-0035

Application

ELISA

Specificity

Human

Antibody Isotype

IgG2a, κ

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format

Liquid

Buffer

PBS, pH 7.2

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

EF-Hand Domain Containing 1

Introduction

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.

Entrez Gene ID

114327

UniProt ID

Q5JVL4

Alternative Names

EF-Hand Domain Containing 1; Myoclonin-1; EF-Hand Domain (C-Terminal) Containing 1; EF-Hand Domain-Containing Protein 1; Epilepsy, Juvenile Myoclonic 1; DJ304B14.2; EJM1

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.

Suzuki, T., Inoue, I., & Yamakawa, K. (2020). Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain. Scientific reports, 10(1), 1-9.

Gonsales, M. C., Ribeiro, P. A., Betting, L. E., Alvim, M. K., Guerreiro, C. M., Yasuda, C. L., ... & Lopes-Cendes, I. (2020). Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy. Epilepsy & Behavior, 112, 107469.

Loucks, C. M., Park, K., Walker, D. S., McEwan, A. H., Timbers, T. A., Ardiel, E. L., ... & Leroux, M. R. (2019). EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling. Elife, 8, e37271.

Sirinocak, P. B., Salman, B., Kesim, F. Y., Bebek, N., Baykan, B., & Iseri, S. A. U. (2019). Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey/Juvenil Miyoklonik Epilepside EFHC1 Geni ile Iliskili Yatkinlik: Turkiye'den Ilk Olgu Sunumu. Turkish Journal of Neurology, 25(4), 233-237.

Kowoll, V. S. K. (2019). Bedeutung von Varianten im EFHC1-Gen bei Patienten mit juveniler myoklonischer Epilepsie (Doctoral dissertation).

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Alternative Versions

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

Antibody Pairs

EFHC1 Matched Antibody Pair (367) (CAT#: APMAB-367LY)

Related Products

EFHC1 Matched Antibody Pair (367) (CAT#: APMAB-367LY)

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

Isotype control

For research use only. Not intended for any clinical use.

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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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