3v31: Difference between revisions

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[[Image:3v31.png|left|200px]]
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{{STRUCTURE_3v31|  PDB=3v31  |  SCENE=  }}  
{{STRUCTURE_3v31|  PDB=3v31  |  SCENE=  }}  
===Crystal Structure of the Peptide Bound Complex of the Ankyrin Repeat Domains of Human ANKRA2===
===Crystal Structure of the Peptide Bound Complex of the Ankyrin Repeat Domains of Human ANKRA2===
{{ABSTRACT_PUBMED_22649097}}


==Disease==
[[http://www.uniprot.org/uniprot/HDAC4_HUMAN HDAC4_HUMAN]] Defects in HDAC4 are the cause of brachydactyly-mental retardation syndrome (BDMR) [MIM:[http://omim.org/entry/600430 600430]]. A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism.<ref>PMID:20691407</ref>


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_22649097}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/ANRA2_HUMAN ANRA2_HUMAN]] May facilitate endocytosis by linking megalin to components of the cytoskeleton or endocytic machinery. [[http://www.uniprot.org/uniprot/HDAC4_HUMAN HDAC4_HUMAN]] Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D.<ref>PMID:10523670</ref>  
(as it appears on PubMed at http://www.pubmed.gov), where 22649097 is the PubMed ID number.
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{{ABSTRACT_PUBMED_22649097}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:022649097</ref><references group="xtra"/>
<ref group="xtra">PMID:022649097</ref><references group="xtra"/><references/>
[[Category: Histone deacetylase]]
[[Category: Histone deacetylase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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