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Proteintech
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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.
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: 1700029F22Rik; dJ304B14.2; EFHC1; EJM1; mRib72-1; myoclonin1
UniProt ID: (Human) Q5JVL4, (Mouse) Q9D9T8
Entrez Gene ID: (Human) 114327, (Rat) 301295, (Mouse) 71877