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- accession：NM_001135745
- 基因别名：ALS2
- 基因描述：Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：1191
- 翻译后氨基酸长度：396
- TranscriptVariant：This variant (2) uses an internal polyA site resulting in a substantially shorter transcript with a unique 3' coding region, compared to variant 1. The encoded isoform (2), also known as the short form, is substantially shorter and has a unique C-terminus, compared to isoform 1.
- 基因简介：The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
