2cp3
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.