TRAPPC9 explained
Trafficking protein particle complex 9 is a protein that in humans is encoded by the TRAPPC9 gene.[1]
Function
This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.
Further reading
- Hu WH, Pendergast JS, Mo XM, Brambilla R, Bracchi-Ricard V, Li F, Walters WM, Blits B, He L, Schaal SM, Bethea JR . NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation . J. Biol. Chem. . 280 . 32 . 29233–41 . 2005 . 15951441 . 3707486 . 10.1074/jbc.M501670200 . free .
- Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y . Association of gene polymorphisms with chronic kidney disease in Japanese individuals . Int. J. Mol. Med. . 24 . 4 . 539–47 . 2009 . 19724895 . 10.3892/ijmm_00000263. free .
- Oguri M, Kato K, Yokoi K, Yoshida T, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y . Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals . Am. J. Hypertens. . 23 . 1 . 70–7 . 2010 . 19851296 . 10.1038/ajh.2009.190 . free .
- Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA . A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly . Am. J. Hum. Genet. . 85 . 6 . 897–902 . 2009 . 20004763 . 2790576 . 10.1016/j.ajhg.2009.10.027 .
- Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB . Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation . Am. J. Hum. Genet. . 85 . 6 . 909–15 . 2009 . 20004765 . 2790571 . 10.1016/j.ajhg.2009.11.009 .
- Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida H, Satoh K, Aoyagi Y, Nozawa Y, Yamada Y . Association of genetic variants with hemorrhagic stroke in Japanese individuals . Int. J. Mol. Med. . 25 . 4 . 649–56 . 2010 . 20198315 . 10.3892/ijmm_00000388. free .
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . Mol. Med. . 16 . 7–8 . 247–53 . 2010 . 20379614 . 2896464 . 10.2119/molmed.2009.00159 .
- Barrowman J, Bhandari D, Reinisch K, Ferro-Novick S . TRAPP complexes in membrane traffic: convergence through a common Rab . Nat. Rev. Mol. Cell Biol. . 11 . 11 . 759–63 . 2010 . 20966969 . 10.1038/nrm2999 . 20099084 .
- Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S . The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability . PLOS ONE . 6 . 8 . e23350 . 2011 . 21858081 . 3156116 . 10.1371/journal.pone.0023350 . 2011PLoSO...623350Z . free .
Notes and References
- Web site: Entrez Gene: Trafficking protein particle complex 9. 2017-06-10.