Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGD RLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFD AYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIK RQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIE LNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWD DTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGIDPFPLLMNRQRVPKV LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPF TRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFAL IPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMIS IFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFG HRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQT EKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF KICESLNVPVDDSLVKELLRMCSHGEGKINYYNFVRAFSN
    • Amino acids
      1 to 640
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab165019 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • EF hand domain (C terminal) containing 1
    • EF hand domain containing protein 1
    • EF-hand domain-containing protein 1
    • Efhc1
    • EFHC1_HUMAN
    • EJA1
    • EJM1
    • FLJ10466
    • FLJ37290
    • JAE
    • Myoclonin 1
    • Myoclonin-1
    see all
  • Function
    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).
  • Tissue specificity
    Widely expressed. Not detected in lymphocytes.
  • Involvement in disease
    Juvenile myoclonic epilepsy 1
    Juvenile absence epilepsy 1
    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.
  • Sequence similarities
    Contains 3 DM10 domains.
    Contains 1 EF-hand domain.
  • Cellular localization
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle.
  • Information by UniProt

Images

  • ab165019 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab165019 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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