人 FMR1 (NM_001185075) cDNA克隆

基本信息

Accession: NM_001185075
基因名称: FMR1
基因别名: POF; FMRP; POF1; FRAXA
基因描述: Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO6, mRNA.
种属: Human
CDS区长度: 1614 (查看编码区序列)
翻译后氨基酸长度: 537 (查看氨基酸序列)
Transcript Variant: This variant (ISO6) lacks an alternate segment and uses a different splice site in the 3' coding region which shifts the reading frame, compared to variant ISO1. The resulting protein (isoform ISO6) has a shorter and distinct C-terminus when it is compared to isoform ISO1.

订购信息

产品编号 产品名称 载体 规格 价格
G115386 人 FMR1 (NM_001185075) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 FMR1 (NM_002024) cDNA克隆 transcript variant ISO1
人 FMR1 (NM_001185081) cDNA克隆 transcript variant ISO12
人 FMR1 (NM_001185075) cDNA克隆 transcript variant ISO6
人 FMR1 (NM_001185076) cDNA克隆 transcript variant ISO7
人 FMR1 (NM_001185082) cDNA克隆 transcript variant ISO9

基因简介

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

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