1qnd
From Proteopedia
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{{STRUCTURE_1qnd| PDB=1qnd | SCENE= }} | {{STRUCTURE_1qnd| PDB=1qnd | SCENE= }} | ||
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===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> | ||
| - | + | ==Function== | |
| - | + | [[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> | |
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==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.]] | ||
Revision as of 06:26, 25 March 2013
Contents |
STEROL CARRIER PROTEIN-2, NMR, 20 STRUCTURES
Template:ABSTRACT PUBMED 10623549
Disease
[NLTP_HUMAN] Defects in SCP2 are a cause of leukoencephalopathy with dystonia and motor neuropathy (LDMN) [MIM: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.[1]
Function
[NLTP_HUMAN] Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.[2][3]
About this Structure
1qnd is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- Garcia FL, Szyperski T, Dyer JH, Choinowski T, Seedorf U, Hauser H, Wuthrich K. NMR structure of the sterol carrier protein-2: implications for the biological role. J Mol Biol. 2000 Jan 21;295(3):595-603. PMID:10623549 doi:10.1006/jmbi.1999.3355
- Szyperski T, Scheek S, Johansson J, Assmann G, Seedorf U, Wuthrich K. NMR determination of the secondary structure and the three-dimensional polypeptide backbone fold of the human sterol carrier protein 2. FEBS Lett. 1993 Nov 29;335(1):18-26. PMID:8243660
- ↑ Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet. 2006 Jun;78(6):1046-52. Epub 2006 Mar 29. PMID:16685654 doi:10.1086/503921
- ↑ Seedorf U, Scheek S, Engel T, Steif C, Hinz HJ, Assmann G. Structure-activity studies of human sterol carrier protein 2. J Biol Chem. 1994 Jan 28;269(4):2613-8. PMID:8300590
- ↑ Stanley WA, Filipp FV, Kursula P, Schuller N, Erdmann R, Schliebs W, Sattler M, Wilmanns M. Recognition of a functional peroxisome type 1 target by the dynamic import receptor pex5p. Mol Cell. 2006 Dec 8;24(5):653-63. PMID:17157249 doi:10.1016/j.molcel.2006.10.024
