{{Short description|Protein-coding gene in humans}} {{Infobox_gene}} '''Ceroid-lipofuscinosis neuronal protein 6''' is a [[protein]] that in humans is encoded by the ''CLN6'' [[gene]].<ref name="pmid9097964">{{cite journal | vauthors = Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE | title = Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 | journal = Hum Mol Genet | volume = 6 | issue = 4 | pages = 591–5 |date=Jul 1997 | pmid = 9097964 | doi =10.1093/hmg/6.4.591 | doi-access = free }}</ref><ref name="pmid11727201">{{cite journal | vauthors = Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE | title = The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein | journal = Am J Hum Genet | volume = 70 | issue = 2 | pages = 537–42 |date=Jan 2002 | pmid = 11727201 | pmc = 384927 | doi = 10.1086/338708 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=54982}}</ref>
The CLN6 protein is part of the [[EGRESS complex]] ('''E'''R-to-'''G'''olgi '''r'''elaying of '''e'''nzymes of the ly'''s'''osomal '''s'''ystem), which recruits [[lysosome|lysosomal]] enzymes at the [[endoplasmic reticulum]] to promote their transfer to the [[Golgi complex]].<ref name="pmid32597833">{{cite journal | vauthors = 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 | title = A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer | journal = J Clin Invest | date = Jun 2020 | volume = 130 | issue = 8 | pages = 4118–4132 | article-number = 10.1172/JCI130955 | pmid = 32597833 | doi = 10.1172/JCI130955 | pmc = 7410054 | doi-access = free }}</ref> The EGRESS complex is composed of CLN6 and [[CLN8]] proteins.<ref name="pmid32597833"/> 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.<ref name="pmid32597833"/>
== See also == * [[Batten disease]]
==References== {{Reflist}}
==Further reading== {{Refbegin|2}} *{{Cite journal |vauthors=Dawson G, Cho S |title=Batten's disease: clues to neuronal protein catabolism in lysosomes. |journal=J. Neurosci. Res. |volume=60 |issue=2 |pages=133–40 |year=2000 |pmid=10740217 |doi=10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 |s2cid=28786470}} *{{Cite journal |vauthors=Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I |title=Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). |journal=Eur. J. Biochem. |volume=268 |issue=22 |pages=5851–6 |year=2001 |pmid=11722572 |doi=10.1046/j.0014-2956.2001.02530.x |doi-access=free}} *{{Cite journal |vauthors=Gao H, Boustany RM, Espinola JA |title=Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. |journal=Am. J. Hum. Genet. |volume=70 |issue=2 |pages=324–35 |year=2002 |pmid=11791207 |doi=10.1086/338190 |pmc=384912 |display-authors=etal}} *{{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue=26 |pages=16899–903 |year=2003 |pmid=12477932 |doi=10.1073/pnas.242603899 |pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Teixeira CA, Espinola J, Huo L |title=Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=21 |issue=5 |pages=502–8 |year=2003 |pmid=12673792 |doi=10.1002/humu.10207 |s2cid=27128687 |display-authors=etal |doi-access=}} *{{Cite journal |vauthors=Sharp JD, Wheeler RB, Parker KA |title=Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. |journal=Hum. Mutat. |volume=22 |issue=1 |pages=35–42 |year=2003 |pmid=12815591 |doi=10.1002/humu.10227 |s2cid=25698616 |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue=1 |pages=40–5 |year=2004 |pmid=14702039 |doi=10.1038/ng1285 |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Heine C, Koch B, Storch S |title=Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. |journal=J. Biol. Chem. |volume=279 |issue=21 |pages=22347–52 |year=2004 |pmid=15010453 |doi=10.1074/jbc.M400643200 |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Mole SE, Michaux G, Codlin S |title=CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. |journal=Exp. Cell Res. |volume=298 |issue=2 |pages=399–406 |year=2004 |pmid=15265688 |doi=10.1016/j.yexcr.2004.04.042 |display-authors=etal}} *{{Cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue=10B |pages=2121–7 |year=2004 |pmid=15489334 |doi=10.1101/gr.2596504 |pmc=528928 |display-authors=etal}} *{{Cite journal |vauthors=Siintola E, Topcu M, Kohlschütter A |title=Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. |journal=Clin. Genet. |volume=68 |issue=2 |pages=167–73 |year=2005 |pmid=15996215 |doi=10.1111/j.1399-0004.2005.00471.x |s2cid=40168289 |display-authors=etal}} *{{Cite journal |vauthors=Otsuki T, Ota T, Nishikawa T |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue=2 |pages=117–26 |year=2007 |pmid=16303743 |doi=10.1093/dnares/12.2.117 |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Teixeira CA, Lin S, Mangas M |title=Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. |journal=Biochim. Biophys. Acta |volume=1762 |issue=7 |pages=637–46 |year=2006 |pmid=16857350 |doi=10.1016/j.bbadis.2006.06.002 |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Olsen JV, Blagoev B, Gnad F |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue=3 |pages=635–48 |year=2006 |pmid=17081983 |doi=10.1016/j.cell.2006.09.026 |display-authors=etal |doi-access=free}} *{{Cite journal |vauthors=Heine C, Quitsch A, Storch S |title=Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. |journal=Mol. Membr. Biol. |volume=24 |issue=1 |pages=74–87 |year=2007 |pmid=17453415 |doi=10.1080/09687860600967317 |s2cid=35490146 |display-authors=etal}} {{Refend}}
==External links== * [https://www.ncbi.nlm.nih.gov/books/NBK1428/ GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses] * {{UCSC gene info|CLN6}}
{{Glycolipid/sphingolipid metabolism enzymes}}
{{gene-15-stub}}