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CLIP2 / CYLN2 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.
Gene Name: | CAP-GLY domain containing linker protein 2 |
Synonyms: | CLIP2, CLIP, Cytoplasmic linker protein 2, CYLN2, Cytoplasmic linker 2, Cytoplasmic linker protein 115, KIAA0291, WBSCR4, WSCR4, WBSCR3, CLIP-115, WSCR3 |
Target Sequences: | NM_003388 NP_003379.3 Q9UDT6 |
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