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- accession：NM_000390
- 基因别名：CHM
- 基因描述：Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：1962
- 翻译后氨基酸长度：653
- TranscriptVariant：This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
- 基因简介：This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
- 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
