Biology:CLN6
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Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[1][2][3]
The CLN6 protein is part of the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), which recruits lysosomal enzymes at the endoplasmic reticulum to promote their transfer to the Golgi complex.[4] The EGRESS complex is composed of CLN6 and CLN8 proteins.[4] Loss-of-function mutations in CLN6 result in inefficient export of lysosomal enzymes from the endoplasmic reticulum and diminished levels of the enzymes at the lysosome.[4]
See also
References
- ↑ "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. Jul 1997. doi:10.1093/hmg/6.4.591. PMID 9097964.
- ↑ "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. Jan 2002. doi:10.1086/338708. PMID 11727201.
- ↑ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54982.
- ↑ 4.0 4.1 4.2 "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer". J Clin Invest 130 (8): 4118–4132. Jun 2020. doi:10.1172/JCI130955. PMID 32597833.
External links
- GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
- Human CLN6 genome location and CLN6 gene details page in the UCSC Genome Browser.
Further reading
- "Batten's disease: clues to neuronal protein catabolism in lysosomes.". J. Neurosci. Res. 60 (2): 133–40. 2000. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID 10740217.
- "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).". Eur. J. Biochem. 268 (22): 5851–6. 2001. doi:10.1046/j.0014-2956.2001.02530.x. PMID 11722572.
- "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. 2002. doi:10.1086/338190. PMID 11791207.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.". Hum. Mutat. 21 (5): 502–8. 2003. doi:10.1002/humu.10207. PMID 12673792.
- "Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.". Hum. Mutat. 22 (1): 35–42. 2003. doi:10.1002/humu.10227. PMID 12815591.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.". J. Biol. Chem. 279 (21): 22347–52. 2004. doi:10.1074/jbc.M400643200. PMID 15010453.
- "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.". Exp. Cell Res. 298 (2): 399–406. 2004. doi:10.1016/j.yexcr.2004.04.042. PMID 15265688.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.". Clin. Genet. 68 (2): 167–73. 2005. doi:10.1111/j.1399-0004.2005.00471.x. PMID 15996215.
- "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. 2007. doi:10.1093/dnares/12.2.117. PMID 16303743.
- "Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.". Biochim. Biophys. Acta 1762 (7): 637–46. 2006. doi:10.1016/j.bbadis.2006.06.002. PMID 16857350.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.". Mol. Membr. Biol. 24 (1): 74–87. 2007. doi:10.1080/09687860600967317. PMID 17453415.
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