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Immunogen sequence: ESKQTEKDPG VQELEALIDT IQKQLKDHSC KDNIREAFQI YDKEASGYVD RDMFFKICES LNVPVDDSLV KELIRMCSHG EGKINYYNFV RAF
Highest antigen sequence identity to the following orthologs: Mouse - 66%, Rat - 66%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; Myoclonin-1
Gene Aliases: dJ304B14.2; EFHC1; EJM1
UniProt ID: (Human) Q5JVL4
Entrez Gene ID: (Human) 114327
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