人 ARHGEF9 (NM_001173480) cDNA克隆

Accession: NM_001173480
基因名称: ARHGEF9
基因别名: PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN
基因描述: Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1245 (查看编码区序列)
翻译后氨基酸长度: 414 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
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G123284 人 ARHGEF9 (NM_001173480) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]