Form
Liquid
Buffer
PBS pH7.3, 0.02% sodium azide, 50% glycerol.
Storage
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Antigen Species
Human
Immunogen
Recombinant fusion protein containing a sequence corresponding to amino acids 391-640 of human EFHC1 (NP_060570.2).
Purification
Purified by affinity chromatography
Conjugation
Unconjugated
Note
For laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
Synonyms
EF-hand domain containing 1 , EJM1 , dJ304B14.2
Background
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]
Database