2cp3: Difference between revisions
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{{STRUCTURE_2cp3| PDB=2cp3 | SCENE= }} | {{STRUCTURE_2cp3| PDB=2cp3 | SCENE= }} | ||
===Solution structure of the 2nd CAP-Gly domain in human CLIP-115/CYLN2=== | ===Solution structure of the 2nd 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 12:13, 24 March 2013
Solution structure of the 2nd CAP-Gly domain in human CLIP-115/CYLN2Solution structure of the 2nd CAP-Gly domain in human CLIP-115/CYLN2
DiseaseDisease
[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.
FunctionFunction
[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 StructureAbout this Structure
2cp3 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See AlsoSee Also
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCA- 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