Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: LMNRQRVPK VLVENAKNFP QCVLEISDQE VLEWYTAKDF IVGKSLTILG RTFFIYDCDP FTRRYYKEKF GITDLPRIDV SKREPPPVKQ ELPPYNGFGL VEDSAQNCFA LIPKAPKKDV IKMLVNDNKV LRYLAVLESP IPEDKDRRFV FSYFLATDMI SIFEPPVRNS GIIGGKYLGR TKVVKPYSTV DNPVYYGPSD FFIGAVIEVF GHRFIILDTD EYVLKYMESN AAQYSPEALA SIQNHVRKRE APAPEAESKQ TEKDPGVQEL EALIDTIQKQ LKDHSCKDNI REAFQIYDKE ASGYVDRDMF FKICESLNVP VDDSLVKELL RMCSHGEGKI NYYNFVRAFS N (291-640 aa encoded by BC020210)
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: 1700029F22Rik; dJ304B14.2; EFHC1; EJM1; mRib72-1; myoclonin1
UniProt ID: (Human) Q5JVL4, (Mouse) Q9D9T8
Entrez Gene ID: (Human) 114327, (Rat) 301295, (Mouse) 71877
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