루비-눈 단백질 호몰로그(Ru)로도 알려진 헤르만스키-푸들락 증후군 6(HPS6)은 인간의 HPS6 [5] 단백질 이다.
기능. 이 무전자 유전자는 멜라노솜 ,[6] 리소솜 과 관련된 유기체 생물 형성에 역할을 할 수 있는 단백질을 암호화합니다. HPS6는 HPS3 , HPS5 와 함께 리소좀 관련 오르가넬레스 복합체 2(BLOC-2)[7]
임상적 의의 이 유전자의 돌연변이는 알비니즘과 [5] [8] 헤르만스키-푸들락 증후군 6형과 관련이 있다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000166189 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000074811 - 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 Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT (February 2003). "Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6". Nat. Genet . 33 (2): 145–53. doi :10.1038/ng1087 . PMID 12548288 . S2CID 23938527 . ^ "Entrez Gene: HPS6 Hermansky–Pudlak syndrome 6" .^ Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (April 2004). "Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6" . Traffic . 5 (4): 276–83. doi :10.1111/j.1600-0854.2004.0171.x PMID 15030569 . S2CID 20584286 . ^ Wei ML (February 2006). "Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function" . Pigment Cell Res . 19 (1): 19–42. doi :10.1111/j.1600-0749.2005.00289.x PMID 16420244 . 추가 정보 Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell . 122 (6): 957–68. doi :10.1016/j.cell.2005.08.029 . hdl :11858/00-001M-0000-0010-8592-0 PMID 16169070 . S2CID 8235923 . 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 . Huizing M, Pederson B, Hess RA, et al. (2009). "Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6" . J. Med. Genet . 46 (12): 803–10. doi :10.1136/jmg.2008.065961 . PMC 3500784 PMID 19843503 . 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 . Grupe A, Li Y, Rowland C, et al. (2006). "A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease" . Am. J. Hum. Genet . 78 (1): 78–88. doi :10.1086/498851 . PMC 1380225 PMID 16385451 . 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 .
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