2cp2 | pdb_00002cp2
From Proteopedia
Solution structure of the 1st CAP-Gly domain in human CLIP-115/CYLN2
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Structural highlights
Disease[CLIP2_HUMAN] Williams syndrome. 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[CLIP2_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). Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. | ||||||||||||||||||
This page was last modified 06:18, 9 March 2022.