BBS4
BBS4
바르데-비들 증후군 4는 인간에게 BBS4 유전자에 의해 암호화된 단백질이다.[5][6][7]
이 유전자는 O-연계 N-acetylglucosamine transferase와 유사한 TPR(Tetratricopptide repeat, TPR)을 함유한 단백질을 암호화한다.이 유전자의 돌연변이는 바르데-비들 증후군 타입 4 환자들을 대상으로 관찰되었다.인코딩된 단백질은 색소성 망막증, 비만, 다극성, 신장 기형, 정신 지체 등에 역할을 할 수 있다.[7]
상호작용
BBS4는 DCTN1과 상호작용하는 것으로 나타났다.[8]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000140463 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000025235 - 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.
- ^ Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (Jan 1995). "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9–13. doi:10.1093/hmg/4.1.9. PMID 7711739.
- ^ Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC (Jun 2001). "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4". Nature Genetics. 28 (2): 188–91. doi:10.1038/88925. PMID 11381270.
- ^ a b "Entrez Gene: BBS4 Bardet-Biedl syndrome 4".
- ^ Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics. 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.
추가 읽기
- Haftek J, Krawczykowa Z, Stankiewicz A, Araszkiewicz H, Goś R, Kasprzak H (June 1975). "[Ocular manifestations in orbital fractures]". Klinika Oczna. 45 (6): 655–9. PMID 1138127.
- Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF (Apr 1997). "Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21". Genomics. 41 (1): 93–9. doi:10.1006/geno.1997.4613. PMID 9126487.
- Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (Jul 2002). "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance". American Journal of Human Genetics. 71 (1): 22–9. doi:10.1086/341031. PMC 384990. PMID 12016587.
- Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC (Oct 2002). "The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene". Archives of Ophthalmology. 120 (10): 1364–7. doi:10.1001/archopht.120.10.1364. PMID 12365916.
- Hoskins BE, Thorn A, Scambler PJ, Beales PL (August 2003). "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique". Human Mutation. 22 (2): 151–7. doi:10.1002/humu.10241. PMID 12872256.
- Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL (May 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nature Genetics. 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.
- Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y (June 2004). "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)". DNA Sequence. 15 (3): 213–8. doi:10.1080/10425170410001679165. PMID 15497446.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
외부 링크
- Bardet-Biedl 증후군에 대한 GeneReviews/NIH/NCBI/UW 입력
- UCSC 게놈 브라우저의 인간 BBS4 유전체 위치 및 BBS4 유전자 세부 정보 페이지.
