CAP-Gly domain-containing linker protein 2 is a protein that in humans is encoded by the CLIP2gene.[1][2][3]
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.[3]
References
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↑Hoogenraad CC, Eussen BH, Langeveld A, van Haperen R, Winterberg S, Wouters CH, Grosveld F, De Zeeuw CI, Galjart N (Dec 1998). "The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region". Genomics. 53 (3): 348–58. doi:10.1006/geno.1998.5529. PMID9799601.
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Ohara O, Nagase T, Ishikawa K, et al. (1997). "Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins". DNA Res. 4 (1): 53–9. doi:10.1093/dnares/4.1.53. PMID9179496.
The Sanger Centre; The Washington University Genome Sequencing Center (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID9847074.
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Akhmanova A, Hoogenraad CC, Drabek K, et al. (2001). "Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts". Cell. 104 (6): 923–35. doi:10.1016/S0092-8674(01)00288-4. PMID11290329.
Hoogenraad CC, Koekkoek B, Akhmanova A, et al. (2002). "Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice". Nat. Genet. 32 (1): 116–27. doi:10.1038/ng954. PMID12195424.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID12853948.
Navarro-Lérida I, Martínez Moreno M, Roncal F, et al. (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–46. doi:10.1002/pmic.200300528. PMID14760703.
Evgrafov OV, Mersiyanova I, Irobi J, et al. (2004). "Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy". Nat. Genet. 36 (6): 602–6. doi:10.1038/ng1354. PMID15122254.
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