바르데-비들 증후군 8 로도 알려진 테트라트리코펩타이드 반복 영역 8(TTC8)은 인간에서 TTC8 유전자 에 의해 암호화된 단백질 이다.[5]
함수 TTC8은 센트로솜 의 감마관 , BBS4 , PCM1 과 연관되어 있다.[5] PCM1은 차례로 ciliogenesis 중의 centriolar 복제에 관여한다.[6]
TTC8은 정자 , 망막 , 기관지 상피 세포의 섬 안에 위치한다.[5]
임상적 유의성 TTC8 유전자의 돌연변이는 바르데-비들 증후군 의 인과관계로 확인된 14개 유전자[7] [5] [8]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000165533 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000021013 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b c d Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome". Nature . 425 (6958): 628–33. doi :10.1038/nature02030 . PMID 14520415 . S2CID 4310157 . ^ Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N (November 1999). "Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis" . J. Cell Biol . 147 (5): 969–80. doi :10.1083/jcb.147.5.969 . PMC 2169353 PMID 10579718 . ^ Hamosh, Ada (2012-11-02). "OMIM entry #209900 Bardet-Biedl Syndrome; BBS" . Online Mendelian Inheritance in Man . McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Retrieved 2013-09-04 . ^ Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H (2006). "BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families" . J. Hum. Genet . 51 (1): 81–4. doi :10.1007/s10038-005-0320-2 PMID 16308660 . 추가 읽기 Nachury MV, Loktev AV, Zhang Q, et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis" . Cell . 129 (6): 1201–13. doi :10.1016/j.cell.2007.03.053 PMID 17574030 . Chung WK, Patki A, Matsuoka N, et al. (2009). "Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations" . Hum. Hered . 67 (3): 193–205. doi :10.1159/000181158 . PMC 2715950 PMID 19077438 . 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 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Riazuddin SA, Iqbal M, Wang Y, et al. (2010). "A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa" . Am. J. Hum. Genet . 86 (5): 805–12. doi :10.1016/j.ajhg.2010.04.001 . PMC 2869005 PMID 20451172 . 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. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Bin J, Madhavan J, Ferrini W, et al. (2009). "BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population" . Hum. Mutat . 30 (7): E737–46. doi :10.1002/humu.21040 PMID 19402160 .
외부 링크
