1qnd: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
{{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> | |||
==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> | |||
==About this Structure== | ==About this Structure== | ||
| Line 22: | Line 13: | ||
==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.]] | ||