EFHC1 Matched Antibody Pair (367) (APMAB-367LY)

This antibody pair set can be used for detecting and quantifying protein level of human EFHC1.
See all EFHC1 antibodies

Datasheet

Specifications

ApplIcation

Sandwich ELISA

Specificity

Human

Capture Antibody

Rabbit anti-EFHC1 polyclonal antibody, 100 ug

Detection Antibody

Anti-EFHC1 Mouse polyclonal antibody, 20 ug

Dilutions

10 ng/ml-100 ng/ml

Format

Liquid

Storage

Aliquot and store at -20°Cor -80°C. Avoid freeze-thaw cycles.

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. [provided by RefSeq, Feb 2010]

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;

Entrez Gene ID

114327

UniProt ID

Q5JVL4

References

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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Protocols

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)
Proteogenomic
Other Protocols

Associated Products

Related Products

Mouse Anti-EFHC1 (AA 270-378) Recombinant Antibody (CBFYE-0475)

Mouse Anti-EFHC1 Recombinant Antibody (CBFYE-0035)

Isotype control

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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