2cp2
From Proteopedia
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{{STRUCTURE_2cp2| PDB=2cp2 | SCENE= }} | {{STRUCTURE_2cp2| PDB=2cp2 | SCENE= }} | ||
===Solution structure of the 1st CAP-Gly domain in human CLIP-115/CYLN2=== | ===Solution structure of the 1st CAP-Gly domain in human CLIP-115/CYLN2=== | ||
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| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/CYLN2_HUMAN CYLN2_HUMAN]] Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/CYLN2_HUMAN CYLN2_HUMAN]] Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). | ||
==About this Structure== | ==About this Structure== | ||
Revision as of 00:20, 25 March 2013
Contents |
Solution structure of the 1st CAP-Gly domain in human CLIP-115/CYLN2
Disease
[CYLN2_HUMAN] Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Function
[CYLN2_HUMAN] Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity).
About this Structure
2cp2 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Categories: Homo sapiens | Inoue, M. | Kigawa, T. | Koshiba, S. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Saito, K. | Yokoyama, S. | Cyln2 | Cytoskeleton associated protein | Kiaa0291 | Microtubule binding | National project on protein structural and functional analyse | Nppsfa | Protein binding | Riken structural genomics/proteomics initiative | Rsgi | Structural genomic
