CLIP2
Function
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).
Involvement in disease
CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:9799601). 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. However, it has been demonstrated that haploinsufficiency of this gene alone is not sufficient to cause any of the cognitive or facial features of WBS (PubMed:22608712).
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Localizes preferentially to the ends of tyrosinated microtubules.
Alternative names
CYLN2, KIAA0291, WBSCR3, WBSCR4, WSCR4, CLIP2, CAP-Gly domain-containing linker protein 2, Cytoplasmic linker protein 115, Cytoplasmic linker protein 2, Williams-Beuren syndrome chromosomal region 3 protein, Williams-Beuren syndrome chromosomal region 4 protein, CLIP-115