RAB33B
Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.[1]
Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome.[2]
References
References
- ↑ Template:Cite web RAB33B, member RAS oncogene family
- ↑ Alshammari MJ, Al-Otaibi L, Alkuraya FS (May 2012). “Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus”. J Med Genet. 49 (7): 455–61. doi:10.1136/jmedgenet-2011-100666. PMID 22652534.
Further reading
Further reading
- Hillier LW, Graves TA, Fulton RS, et al. (2005). “Generation and annotation of the DNA sequences of human chromosomes 2 and 4”. Nature. 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
- Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). “High-throughput mapping of a dynamic signaling network in mammalian cells”. Science. 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Valsdottir R, Hashimoto H, Ashman K, et al. (2001). “Identification of rabaptin-5, rabex-5, and GM130 as putative effectors of rab33b, a regulator of retrograde traffic between the Golgi apparatus and ER”. FEBS Lett. 508 (2): 201–9. doi:10.1016/S0014-5793(01)02993-3. PMID 11718716.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2001). “Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing”. EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). “Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs”. Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Zheng JY, Koda T, Fujiwara T, et al. (1998). “A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized to the medial Golgi cisternae”. J. Cell Sci. 111 (8): 1061–9. PMID 9512502.
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