2cp2: Difference between revisions
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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=== | ||
==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. | |||
==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
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
Proteopedia Page Contributors and Editors (what is this?)
- 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
