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== | ||
