background:
Fragile X syndrome is caused by the absence of the fragile X mental-retardation protein (FMRP). FMRP is the archetype of a class of cytoplasmic mRNA-binding proteins that includes the fragile X-related 1 and 2 proteins (FXR1 and FXR2). The fragile X-related proteins FXR1 and FXR2 contain a functional nucleolar-targeting signal equivalent to the HISLV1 regulatory proteins.
Function:
RNA-binding protein.
Subunit:
Interacts with FMR1 and FXR1. Interacts with CYFIP2 but not with CYFIP1. Interacts with TDRD3.
Subcellular Location:
Cytoplasm.
Similarity:
Belongs to the FMR1 family.
Contains 2 Agenet-like domains.
Contains 2 KH domains.
Database links:
Entrez Gene: 9513 Human
Entrez Gene: 100512131 Pig
Entrez Gene: 100343838 Rabbit
Entrez Gene: 287433 Rat
Omim: 605339 Human
SwissProt: P51116 Human
Unigene: 52788 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
脆性X综合症,又称马丁-贝尔综合症,是一种遗传疾病。该综合症可以导致一系列的特征性症状,包括生理、智力、情绪、以及行为上的异常。症状的轻重各有不同。该疾病伴随着X染色体上一个简单的三核苷酸基因序列(CGG)的扩增。这种扩增导致了一种称为FMR-1的蛋白质无法在病人体内表达,而该蛋白质是神经的正常发育必不可少的。
根据CGG重复序列的长度,目前普遍认可将脆性X综合症分为四种类型:正常人(含有19-31个CGG重复序列),前突变者(含有55-200个CGG重复序列),全突变者(含有200个以上的CGG重复序列),过渡型,又称“灰色区域型”(含有40-60个重复)。脆性X综合征这是一种导致智力低下的遗传疾病,是导致人群中智力低下的第二大病因——仅次于21三体综合症。
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