| Structural highlights
Disease
[KBP_HUMAN] Goldberg-Shprintzen megacolon syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
[KBP_HUMAN] Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development.[1] [2] [3]
Publication Abstract from PubMed
[Figure: see text].
Kinesin-binding protein remodels the kinesin motor to prevent microtubule binding.,Solon AL, Tan Z, Schutt KL, Jepsen L, Haynes SE, Nesvizhskii AI, Sept D, Stumpff J, Ohi R, Cianfrocco MA Sci Adv. 2021 Nov 19;7(47):eabj9812. doi: 10.1126/sciadv.abj9812. Epub 2021 Nov, 19. PMID:34797717[4]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
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:https://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:https://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:https://dx.doi.org/10.1093/hmg/ddt083
- ↑ Solon AL, Tan Z, Schutt KL, Jepsen L, Haynes SE, Nesvizhskii AI, Sept D, Stumpff J, Ohi R, Cianfrocco MA. Kinesin-binding protein remodels the kinesin motor to prevent microtubule binding. Sci Adv. 2021 Nov 19;7(47):eabj9812. doi: 10.1126/sciadv.abj9812. Epub 2021 Nov, 19. PMID:34797717 doi:https://dx.doi.org/10.1126/sciadv.abj9812
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