2cp3

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Template:STRUCTURE 2cp3

Contents

Solution structure of the 2nd 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

2cp3 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?)

OCA

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