RAB33B explained
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]
Further reading
- Hillier LW, Graves TA, Fulton RS, etal . Generation and annotation of the DNA sequences of human chromosomes 2 and 4. . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . 2005Natur.434..724H . free .
- Barrios-Rodiles M, Brown KR, Ozdamar B, etal . High-throughput mapping of a dynamic signaling network in mammalian cells. . Science . 307 . 5715 . 1621–5 . 2005 . 15761153 . 10.1126/science.1105776 . 2005Sci...307.1621B . 39457788 .
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
- Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Valsdottir R, Hashimoto H, Ashman K, etal . 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 . 2001 . 11718716 . 10.1016/S0014-5793(01)02993-3 . 21545088 . free .
- Simpson JC, Wellenreuther R, Poustka A, etal . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 .
- Wiemann S, Weil B, Wellenreuther R, etal . 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 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 .
- Zheng JY, Koda T, Fujiwara T, etal . A novel Rab GTPase, Rab33B, is ubiquitously expressed and localized to the medial Golgi cisternae. . J. Cell Sci. . 111 . 8. 1061–9 . 1998 . 10.1242/jcs.111.8.1061 . 9512502 .
Notes and References
- Web site: RAB33B, member RAS oncogene family .
- Alshammari MJ, Al-Otaibi L, Alkuraya FS . 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. May 2012 . 22652534 . 10.1136/jmedgenet-2011-100666 . 206997124 .