2pa2

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[[Image:2pa2.png|left|200px]]
 
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{{STRUCTURE_2pa2| PDB=2pa2 | SCENE= }}
{{STRUCTURE_2pa2| PDB=2pa2 | SCENE= }}
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===Crystal structure of human Ribosomal protein L10 core domain===
===Crystal structure of human Ribosomal protein L10 core domain===
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{{ABSTRACT_PUBMED_18258260}}
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{{ABSTRACT_PUBMED_18258260}}
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==Disease==
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[[http://www.uniprot.org/uniprot/RL10_HUMAN RL10_HUMAN]] Defects in RPL10 are a cause of susceptibility to autism X-linked type 5 (AUTSX5) [MIM:[http://omim.org/entry/300847 300847]]. A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=RPL10 is involved in autism only in rare cases. Two hypomorphic variants affecting the translation process have been found in families with autism spectrum disorders, suggesting that aberrant translation may play a role in disease mechanisms.<ref>PMID:16940977</ref><ref>PMID:21567917</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:018258260</ref><references group="xtra"/>
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<ref group="xtra">PMID:018258260</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Kaminishi, T.]]
[[Category: Kaminishi, T.]]

Revision as of 22:21, 24 March 2013

Template:STRUCTURE 2pa2

Contents

Crystal structure of human Ribosomal protein L10 core domain

Template:ABSTRACT PUBMED 18258260

Disease

[RL10_HUMAN] Defects in RPL10 are a cause of susceptibility to autism X-linked type 5 (AUTSX5) [MIM:300847]. A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=RPL10 is involved in autism only in rare cases. Two hypomorphic variants affecting the translation process have been found in families with autism spectrum disorders, suggesting that aberrant translation may play a role in disease mechanisms.[1][2]

About this Structure

2pa2 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Nishimura M, Kaminishi T, Takemoto C, Kawazoe M, Yoshida T, Tanaka A, Sugano S, Shirouzu M, Ohkubo T, Yokoyama S, Kobayashi Y. Crystal structure of human ribosomal protein L10 core domain reveals eukaryote-specific motifs in addition to the conserved fold. J Mol Biol. 2008 Mar 21;377(2):421-30. Epub 2008 Jan 11. PMID:18258260 doi:10.1016/j.jmb.2008.01.003
  1. ↑ Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I, Wellenreuther R, Schmotzer G, Poustka F, Breitenbach-Koller L, Poustka A. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol Psychiatry. 2006 Dec;11(12):1073-84. Epub 2006 Aug 29. PMID:16940977 doi:4001883
  2. ↑ Chiocchetti A, Pakalapati G, Duketis E, Wiemann S, Poustka A, Poustka F, Klauck SM. Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder. Am J Med Genet A. 2011 Jun;155A(6):1472-5. doi: 10.1002/ajmg.a.33977. Epub 2011, May 12. PMID:21567917 doi:10.1002/ajmg.a.33977

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