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Invitrogen
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Immunogen sequence: EDSAQNCFAL IPKAPKKDVI KMLVNDNKVL RYLAVLESPI PEDKDRRFVF SYFLATDMIS IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD NPVYYGPSDF FIGAVIEVFG HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA PAPEAESKQT EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN; Positive Samples: HeLa, Mouse testis, Mouse brain; Cellular Location: Cytoplasm, centrosome, cytoskeleton, microtubule organizing center, spindle
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