2la5: Difference between revisions

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[[Image:2la5.png|left|200px]]
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{{STRUCTURE_2la5|  PDB=2la5  |  SCENE=  }}  
{{STRUCTURE_2la5|  PDB=2la5  |  SCENE=  }}  
===RNA Duplex-Quadruplex Junction Complex with FMRP RGG peptide===
===RNA Duplex-Quadruplex Junction Complex with FMRP RGG peptide===
{{ABSTRACT_PUBMED_21642970}}


==Disease==
[[http://www.uniprot.org/uniprot/FMR1_HUMAN FMR1_HUMAN]] Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:[http://omim.org/entry/300624 300624]]. Fragile X syndrome is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.<ref>PMID:18664458</ref><ref>PMID:8401578</ref><ref>PMID:7688265</ref><ref>PMID:17850748</ref><ref>PMID:8490650</ref><ref>PMID:7633450</ref><ref>PMID:9659908</ref><ref>PMID:15805463</ref>  Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:[http://omim.org/entry/300623 300623]]. In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:[http://omim.org/entry/300624 300624]]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems.<ref>PMID:11445641</ref>  Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:[http://omim.org/entry/311360 311360]]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.<ref>PMID:9719368</ref>


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_21642970}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/FMR1_HUMAN FMR1_HUMAN]] Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).
(as it appears on PubMed at http://www.pubmed.gov), where 21642970 is the PubMed ID number.
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{{ABSTRACT_PUBMED_21642970}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:021642970</ref><references group="xtra"/>
<ref group="xtra">PMID:021642970</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Darnell, J.]]
[[Category: Darnell, J.]]
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