EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)

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EJM; EJM1; EF-Hand Domain Containing Protein 1; Myoclonin-1

EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)
EFHC1 has a molecular mass of 74 kD and contains 3 DM10 domains and an EF-hand calcium-binding motif. Alternative splicing of exon 4 yields 2 transcripts termed A and B; the B transcript results in a C-terminally truncated protein. both transcripts are expressed in various tissues, including brain, but not in lymphocytes.Immunohistochemical analysis showed that staining for the EFCH1 protein overlapped with signals for the Ca(V)2.3 voltage-gated calcium channel (CACNA1E) at neuronal soma and dendrites. Patch-clamp experiments demonstrated that EFHC1 increased the CACNA1E current, suggesting that EFHC1 enhances calcium influx through that channel and stimulates programmed cell death. Expression of EFCH1 mutants in the same system substantially reduced the cell-death effect.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)CLIA Kit Customized Service Offer
n/aELISA Kit for EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)CLIA Kit Customized Service Offer
n/aELISA Kit for EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)CLIA Kit Customized Service Offer
n/aELISA Kit for EF-Hand Domain C-Terminal Containing Protein 1 (EFHC1)ELISA Kit Customized Service Offer
  1. "Mutations in EFHC1 cause juvenile myoclonic epilepsy." Nat. Genet. 36:842-849(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations."Neurology 67:2029-2031(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy." Epilepsia 48:1686-1690(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development."Hum. Mol. Genet. 21:5106-5117(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene."Epilepsia 53:1436-1440(2012) [PubMed] [Europe PMC] [Abstract]
  9. "Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy."Seizure 21:550-554(2012) [PubMed] [Europe PMC] [Abstract]