Structural highlightsDiseaseKBP_HUMAN Goldberg-Shprintzen megacolon syndrome. The disease is caused by variants affecting the gene represented in this entry.
FunctionKBP_HUMAN Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.[1] [2] [3]
References
- ↑ Wozniak MJ, Melzer M, Dorner C, Haring HU, Lammers R. The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. BMC Cell Biol. 2005 Oct 14;6:35. doi: 10.1186/1471-2121-6-35. PMID:16225668 doi:http://dx.doi.org/10.1186/1471-2121-6-35
- ↑ Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM. KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. Hum Mol Genet. 2010 Sep 15;19(18):3642-51. doi: 10.1093/hmg/ddq280. Epub 2010 Jul, 9. PMID:20621975 doi:http://dx.doi.org/10.1093/hmg/ddq280
- ↑ Drevillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet. 2013 Jun 15;22(12):2387-99. doi: 10.1093/hmg/ddt083. Epub 2013 Feb, 19. PMID:23427148 doi:http://dx.doi.org/10.1093/hmg/ddt083
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