CAP-Gly Domain Containing Linker Protein 2 (CLIP2)

CLIP2 belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants.The deduced partial human CYLN2 protein contains an N-terminal globular region with 2 microtubule-binding domains, followed by a potential alpha-helical coiled-coils region.