CLN6 식별자 에일리어스 CLN6 외부 ID OMIM : 606725 MGI : 2159324 HomoloGene : 9898 GeneCard: CLN6 맞춤법 종. 인간 마우스 엔트레즈 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 장소(UCSC) 없음 Chr 9: 62.75 ~62.76 Mb PubMed 검색[2] [3] 위키데이터
세로이드 리포푸시누스증 신경단백질 6은 CLN6 [4] [5] [6] 부호화 되는 단백질이다.
CLN6 단백질은 골지 [7] 소포체 에서 리소좀 효소를 모집하는 ERGRESS 복합체(리소좀계 EGRESS 복합체는 CLN6 [7] CLN8 단백질로 구성되어 있습니다.CLN6의 기능 상실은 소포체로부터의 리소좀 효소의 비효율적인 수출과 리소좀 의 [7]
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000032245 - 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 .^ Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE (Jul 1997). "Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23" . Hum Mol Genet . 6 (4): 591–5. doi :10.1093/hmg/6.4.591 PMID 9097964 . ^ Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (Jan 2002). "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein" . Am J Hum Genet . 70 (2): 537–42. doi :10.1086/338708 . PMC 384927 PMID 11727201 . ^ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant" .^ a b c Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M (Jun 2020). "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer" . J Clin Invest . 130 (8): 4118–4132. doi :10.1172/JCI130955 PMC 7410054 PMID 32597833 .
외부 링크 추가 정보 Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res . 60 (2): 133–40. doi :10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 . PMID 10740217 . Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I (2001). "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)" . Eur. J. Biochem . 268 (22): 5851–6. doi :10.1046/j.0014-2956.2001.02530.x PMID 11722572 . Gao H, Boustany RM, Espinola JA, et al. (2002). "Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse" . Am. J. Hum. Genet . 70 (2): 324–35. doi :10.1086/338190 . PMC 384912 PMID 11791207 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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 . Teixeira CA, Espinola J, Huo L, et al. (2003). "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat . 21 (5): 502–8. doi :10.1002/humu.10207 . PMID 12673792 . S2CID 27128687 . Sharp JD, Wheeler RB, Parker KA, et al. (2003). "Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat . 22 (1): 35–42. doi :10.1002/humu.10227 . PMID 12815591 . S2CID 25698616 . 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 . Heine C, Koch B, Storch S, et al. (2004). "Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A." J. Biol. Chem . 279 (21): 22347–52. doi :10.1074/jbc.M400643200 PMID 15010453 . Mole SE, Michaux G, Codlin S, et al. (2004). "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein". Exp. Cell Res . 298 (2): 399–406. doi :10.1016/j.yexcr.2004.04.042 . PMID 15265688 . 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 . Siintola E, Topcu M, Kohlschütter A, et al. (2005). "Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin". Clin. Genet . 68 (2): 167–73. doi :10.1111/j.1399-0004.2005.00471.x . PMID 15996215 . S2CID 40168289 . Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries" . DNA Res . 12 (2): 117–26. doi :10.1093/dnares/12.2.117 PMID 16303743 . Teixeira CA, Lin S, Mangas M, et al. (2006). "Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology" . Biochim. Biophys. Acta . 1762 (7): 637–46. doi :10.1016/j.bbadis.2006.06.002 PMID 16857350 . Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48. doi :10.1016/j.cell.2006.09.026 PMID 17081983 . Heine C, Quitsch A, Storch S, et al. (2007). "Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6". Mol. Membr. Biol . 24 (1): 74–87. doi :10.1080/09687860600967317 . PMID 17453415 . S2CID 35490146 .