人 PLEKHG4 (NM_001129731) cDNA克隆

Accession: NM_001129731
基因名称: PLEKHG4
基因别名: SCA4; PRTPHN1; ARHGEF44
基因描述: Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 5, mRNA.
种属: Human
CDS区长度: 3333 (查看编码区序列)
翻译后氨基酸长度: 1110 (查看氨基酸序列)
Transcript Variant: This variant (5) uses an alternative donor splice site at the 1st exon, and lacks the following coding exon compared to transcript variant 1. However, it maintains the reading frame and results in a shorter isoform (2) that is missing an internal protein segment compared to isoform 1.
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G122499 人 PLEKHG4 (NM_001129731) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different isoform, have been found for this gene. [provided by RefSeq, Jul 2008]