background:
The protein encoded by this gene 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. [provided by RefSeq, Jul 2008]
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 operates in the control of brain-specific organelle translocations.
Subunit:
Interacts with CLASP1 and CLASP2.
Subcellular Location:
Cytoplasm. Cytoplasm; cytoskeleton. Associated with the cytoskeleton.
DISEASE:
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.
Similarity:
Contains 2 CAP-Gly domains.
Database links:
Entrez Gene: 7461 Human
Entrez Gene: 269713 Mouse
Entrez Gene: 29264 Rat
Omim: 603432 Human
SwissProt: Q9UDT6 Human
SwissProt: Q9Z0H8 Mouse
SwissProt: O55156 Rat
Unigene: 647018 Human
Unigene: 255138 Mouse
Unigene: 10893 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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