Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene .[ 5] [ 6] [ 7]
SAS-6 is necessary for centrosome duplication and functions during procentriole formation; SAS-6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle .[ 8]
Clinical significance
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Mutations in SASS6 are associated to MCPH .[ 9]
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Dammermann A, Müller-Reichert T, Pelletier L, et al. (2004). "Centriole assembly requires both centriolar and pericentriolar material proteins" . Dev. Cell . 7 (6): 815–29. doi :10.1016/j.devcel.2004.10.015 PMID 15572125 . Kleylein-Sohn J, Westendorf J, Le Clech M, et al. (2007). "Plk4-induced centriole biogenesis in human cells" . Dev. Cell . 13 (2): 190–202. doi :10.1016/j.devcel.2007.07.002 PMID 17681131 . Habedanck R, Stierhof YD, Wilkinson CJ, Nigg EA (2005). "The Polo kinase Plk4 functions in centriole duplication". Nat. Cell Biol . 7 (11): 1140–6. doi :10.1038/ncb1320 . PMID 16244668 . S2CID 1349505 . Lunardi A, Di Minin G, Provero P, et al. (2010). "A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network" . Proc. Natl. Acad. Sci. U.S.A . 107 (14): 6322–7. Bibcode :2010PNAS..107.6322L . doi :10.1073/pnas.1002447107 PMC 2851947 PMID 20308539 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape" . Cell . 138 (2): 389–403. doi :10.1016/j.cell.2009.04.042 . PMC 2716422 PMID 19615732 . Tang CJ, Fu RH, Wu KS, et al. (2009). "CPAP is a cell-cycle regulated protein that controls centriole length" . Nat. Cell Biol . 11 (7): 825–31. doi :10.1038/ncb1889 PMID 19503075 . S2CID 7478662 . Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
