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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: EF-hand domain (C-terminal) containing 1; EF-hand domain-containing protein 1; Myoclonin-1
基因别名: dJ304B14.2; EFHC1; EJM1
UniProt ID: (Human) Q5JVL4
Entrez Gene ID: (Human) 114327