1qnd: Difference between revisions

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[[Image:1qnd.png|left|200px]]
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{{STRUCTURE_1qnd|  PDB=1qnd  |  SCENE=  }}  
{{STRUCTURE_1qnd|  PDB=1qnd  |  SCENE=  }}  
===STEROL CARRIER PROTEIN-2, NMR, 20 STRUCTURES===
===STEROL CARRIER PROTEIN-2, NMR, 20 STRUCTURES===
{{ABSTRACT_PUBMED_10623549}}


==Disease==
[[http://www.uniprot.org/uniprot/NLTP_HUMAN NLTP_HUMAN]] Defects in SCP2 are a cause of leukoencephalopathy with dystonia and motor neuropathy (LDMN) [MIM:[http://omim.org/entry/613724 613724]]; also known as sterol carrier protein 2 deficiency. LDMN is a syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine.<ref>PMID:16685654</ref>


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_10623549}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/NLTP_HUMAN NLTP_HUMAN]] Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.<ref>PMID:8300590</ref><ref>PMID:17157249</ref>  
(as it appears on PubMed at http://www.pubmed.gov), where 10623549 is the PubMed ID number.
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{{ABSTRACT_PUBMED_10623549}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:010623549</ref><ref group="xtra">PMID:008243660</ref><references group="xtra"/>
<ref group="xtra">PMID:010623549</ref><ref group="xtra">PMID:008243660</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Choinowski, T.]]
[[Category: Choinowski, T.]]