人 EFHC1 (NM_018100) cDNA克隆

Accession: NM_018100
基因名称: EFHC1
基因别名: dJ304B14.2
基因描述: Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.
种属: Human
CDS区长度: 1923 (查看编码区序列)
翻译后氨基酸长度: 640 (查看氨基酸序列)
Transcript Variant: This variant (A) encodes the longer isoform (1).
产品编号 产品名称 载体 规格 价格
G112528 人 EFHC1 (NM_018100) cDNA克隆 pDONR223 2ug质粒 点击询价

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. [provided by RefSeq, Feb 2010]