# CLN6

> Mediated Wiki article. Canonical URL: https://mediated.wiki/source/CLN6
> Markdown URL: https://mediated.wiki/source/CLN6.md
> Source: https://en.wikipedia.org/wiki/CLN6
> Source revision: 1317949139
> License: Creative Commons Attribution-ShareAlike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/)

Protein-coding gene in humans

CLN6 Identifiers Aliases CLN6, CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A External IDs OMIM: 606725; MGI: 2159324; HomoloGene: 9898; GeneCards: CLN6; OMA:CLN6 - orthologs Gene location (Mouse) Chr. Chromosome 9 (mouse)[1] Band 9 B|9 33.89 cM Start 62,746,067 bp[1] End 62,759,288 bp[1] RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte bone marrow bone marrow cell rectum renal cortex placenta kidney islet of Langerhans blood appendix Top expressed in yolk sac islet of Langerhans spermatocyte lip seminiferous tubule muscle of thigh proximal tubule right kidney corneal stroma neural layer of retina More reference expression data BioGPS More reference expression data Gene ontology Molecular function protein binding protein homodimerization activity Cellular component integral component of membrane endoplasmic reticulum lumen endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process glycosaminoglycan metabolic process cellular macromolecule catabolic process lysosomal lumen acidification ganglioside metabolic process cholesterol metabolic process protein catabolic process locomotion involved in locomotory behavior lysosome organization visual perception positive regulation of proteolysis Sources:Amigo / QuickGO Orthologs Species Human Mouse Entrez 54982 76524 Ensembl n/a ENSMUSG00000032245 UniProt Q9NWW5 n/a RefSeq (mRNA) NM_017882 NM_001033175 RefSeq (protein) NP_060352 n/a Location (UCSC) n/a Chr 9: 62.75 – 62.76 Mb PubMed search [2] [3] Wikidata View/Edit Human View/Edit Mouse

**Ceroid-lipofuscinosis neuronal protein 6** is a [protein](/source/Protein) that in humans is encoded by the *CLN6* [gene](/source/Gene).[4][5][6]

The CLN6 protein is part of the [EGRESS complex](https://en.wikipedia.org/w/index.php?title=EGRESS_complex&action=edit&redlink=1) (**E**R-to-**G**olgi **r**elaying of **e**nzymes of the ly**s**osomal **s**ystem), which recruits [lysosomal](/source/Lysosome) enzymes at the [endoplasmic reticulum](/source/Endoplasmic_reticulum) to promote their transfer to the [Golgi complex](/source/Golgi_complex).[7] The EGRESS complex is composed of CLN6 and [CLN8](/source/CLN8) proteins.[7] 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.[7]

## See also

- [Batten disease](/source/Batten_disease)

## References

1. ^ [***a***](#cite_ref-refGRCm38Ensembl_1-0) [***b***](#cite_ref-refGRCm38Ensembl_1-1) [***c***](#cite_ref-refGRCm38Ensembl_1-2) [GRCm38: Ensembl release 89: ENSMUSG00000032245](http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000032245) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. **[^](#cite_ref-2)** ["Human PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=54982). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-3)** ["Mouse PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=76524). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-pmid9097964_4-0)** 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"](https://doi.org/10.1093%2Fhmg%2F6.4.591). *Hum Mol Genet*. **6** (4): 591–5. [doi](/source/Doi_(identifier)):[10.1093/hmg/6.4.591](https://doi.org/10.1093%2Fhmg%2F6.4.591). [PMID](/source/PMID_(identifier)) [9097964](https://pubmed.ncbi.nlm.nih.gov/9097964).

1. **[^](#cite_ref-pmid11727201_5-0)** 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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384927). *Am J Hum Genet*. **70** (2): 537–42. [doi](/source/Doi_(identifier)):[10.1086/338708](https://doi.org/10.1086%2F338708). [PMC](/source/PMC_(identifier)) [384927](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384927). [PMID](/source/PMID_(identifier)) [11727201](https://pubmed.ncbi.nlm.nih.gov/11727201).

1. **[^](#cite_ref-entrez_6-0)** ["Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant"](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=54982).

1. ^ [***a***](#cite_ref-pmid32597833_7-0) [***b***](#cite_ref-pmid32597833_7-1) [***c***](#cite_ref-pmid32597833_7-2) 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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410054). *J Clin Invest*. **130** (8) 10.1172/JCI130955: 4118–4132. [doi](/source/Doi_(identifier)):[10.1172/JCI130955](https://doi.org/10.1172%2FJCI130955). [PMC](/source/PMC_(identifier)) [7410054](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410054). [PMID](/source/PMID_(identifier)) [32597833](https://pubmed.ncbi.nlm.nih.gov/32597833).

## Further reading

- Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". *J. Neurosci. Res*. **60** (2): 133–40. [doi](/source/Doi_(identifier)):[10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3](https://doi.org/10.1002%2F%28SICI%291097-4547%2820000415%2960%3A2%3C133%3A%3AAID-JNR1%3E3.0.CO%3B2-3). [PMID](/source/PMID_(identifier)) [10740217](https://pubmed.ncbi.nlm.nih.gov/10740217). [S2CID](/source/S2CID_(identifier)) [28786470](https://api.semanticscholar.org/CorpusID:28786470).

- Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I (2001). ["Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)"](https://doi.org/10.1046%2Fj.0014-2956.2001.02530.x). *Eur. J. Biochem*. **268** (22): 5851–6. [doi](/source/Doi_(identifier)):[10.1046/j.0014-2956.2001.02530.x](https://doi.org/10.1046%2Fj.0014-2956.2001.02530.x). [PMID](/source/PMID_(identifier)) [11722572](https://pubmed.ncbi.nlm.nih.gov/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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384912). *Am. J. Hum. Genet*. **70** (2): 324–35. [doi](/source/Doi_(identifier)):[10.1086/338190](https://doi.org/10.1086%2F338190). [PMC](/source/PMC_(identifier)) [384912](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384912). [PMID](/source/PMID_(identifier)) [11791207](https://pubmed.ncbi.nlm.nih.gov/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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241). *Proc. Natl. Acad. Sci. U.S.A*. **99** (26): 16899–903. [Bibcode](/source/Bibcode_(identifier)):[2002PNAS...9916899M](https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M). [doi](/source/Doi_(identifier)):[10.1073/pnas.242603899](https://doi.org/10.1073%2Fpnas.242603899). [PMC](/source/PMC_(identifier)) [139241](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241). [PMID](/source/PMID_(identifier)) [12477932](https://pubmed.ncbi.nlm.nih.gov/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](/source/Doi_(identifier)):[10.1002/humu.10207](https://doi.org/10.1002%2Fhumu.10207). [PMID](/source/PMID_(identifier)) [12673792](https://pubmed.ncbi.nlm.nih.gov/12673792). [S2CID](/source/S2CID_(identifier)) [27128687](https://api.semanticscholar.org/CorpusID:27128687).

- Sharp JD, Wheeler RB, Parker KA, et al. (2003). ["Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis"](https://doi.org/10.1002%2Fhumu.10227). *Hum. Mutat*. **22** (1): 35–42. [doi](/source/Doi_(identifier)):[10.1002/humu.10227](https://doi.org/10.1002%2Fhumu.10227). [PMID](/source/PMID_(identifier)) [12815591](https://pubmed.ncbi.nlm.nih.gov/12815591). [S2CID](/source/S2CID_(identifier)) [25698616](https://api.semanticscholar.org/CorpusID:25698616).

- Ota T, Suzuki Y, Nishikawa T, et al. (2004). ["Complete sequencing and characterization of 21,243 full-length human cDNAs"](https://doi.org/10.1038%2Fng1285). *Nat. Genet*. **36** (1): 40–5. [doi](/source/Doi_(identifier)):[10.1038/ng1285](https://doi.org/10.1038%2Fng1285). [PMID](/source/PMID_(identifier)) [14702039](https://pubmed.ncbi.nlm.nih.gov/14702039).

- Heine C, Koch B, Storch S, et al. (2004). ["Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A."](https://doi.org/10.1074%2Fjbc.M400643200) *J. Biol. Chem*. **279** (21): 22347–52. [doi](/source/Doi_(identifier)):[10.1074/jbc.M400643200](https://doi.org/10.1074%2Fjbc.M400643200). [PMID](/source/PMID_(identifier)) [15010453](https://pubmed.ncbi.nlm.nih.gov/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](/source/Doi_(identifier)):[10.1016/j.yexcr.2004.04.042](https://doi.org/10.1016%2Fj.yexcr.2004.04.042). [PMID](/source/PMID_(identifier)) [15265688](https://pubmed.ncbi.nlm.nih.gov/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)"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928). *Genome Res*. **14** (10B): 2121–7. [doi](/source/Doi_(identifier)):[10.1101/gr.2596504](https://doi.org/10.1101%2Fgr.2596504). [PMC](/source/PMC_(identifier)) [528928](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928). [PMID](/source/PMID_(identifier)) [15489334](https://pubmed.ncbi.nlm.nih.gov/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](/source/Doi_(identifier)):[10.1111/j.1399-0004.2005.00471.x](https://doi.org/10.1111%2Fj.1399-0004.2005.00471.x). [PMID](/source/PMID_(identifier)) [15996215](https://pubmed.ncbi.nlm.nih.gov/15996215). [S2CID](/source/S2CID_(identifier)) [40168289](https://api.semanticscholar.org/CorpusID: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"](https://doi.org/10.1093%2Fdnares%2F12.2.117). *DNA Res*. **12** (2): 117–26. [doi](/source/Doi_(identifier)):[10.1093/dnares/12.2.117](https://doi.org/10.1093%2Fdnares%2F12.2.117). [PMID](/source/PMID_(identifier)) [16303743](https://pubmed.ncbi.nlm.nih.gov/16303743).

- Teixeira CA, Lin S, Mangas M, et al. (2006). ["Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology"](https://doi.org/10.1016%2Fj.bbadis.2006.06.002). *Biochim. Biophys. Acta*. **1762** (7): 637–46. [doi](/source/Doi_(identifier)):[10.1016/j.bbadis.2006.06.002](https://doi.org/10.1016%2Fj.bbadis.2006.06.002). [PMID](/source/PMID_(identifier)) [16857350](https://pubmed.ncbi.nlm.nih.gov/16857350).

- Olsen JV, Blagoev B, Gnad F, et al. (2006). ["Global, in vivo, and site-specific phosphorylation dynamics in signaling networks"](https://doi.org/10.1016%2Fj.cell.2006.09.026). *Cell*. **127** (3): 635–48. [doi](/source/Doi_(identifier)):[10.1016/j.cell.2006.09.026](https://doi.org/10.1016%2Fj.cell.2006.09.026). [PMID](/source/PMID_(identifier)) [17081983](https://pubmed.ncbi.nlm.nih.gov/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](/source/Doi_(identifier)):[10.1080/09687860600967317](https://doi.org/10.1080%2F09687860600967317). [PMID](/source/PMID_(identifier)) [17453415](https://pubmed.ncbi.nlm.nih.gov/17453415). [S2CID](/source/S2CID_(identifier)) [35490146](https://api.semanticscholar.org/CorpusID:35490146).

## External links

- [GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses](https://www.ncbi.nlm.nih.gov/books/NBK1428/)

- Human [*CLN6*](https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=CLN6) genome location and [*CLN6*](https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=CLN6) gene details page in the [UCSC Genome Browser](/source/UCSC_Genome_Browser).

v t e Metabolism, lipid metabolism, glycolipid enzymes Sphingolipid To glycosphingolipid Glycosyltransferase Sulfotransferase To ceramide From ganglioside β-Galactosidase Hexosaminidase A Neuraminidase Glucocerebrosidase From globoside Hexosaminidase B α-Galactosidase β-Galactosidase Glucocerebrosidase From sphingomyelin Sphingomyelin phosphodiesterase Sphingomyelin phosphodiesterase 1 From sulfatide Arylsulfatase A Galactosylceramidase To sphingosine Ceramidase ACER1 ACER2 ACER3 ASAH1 ASAH2 ASAH2B ASAH2C Other Sphingosine kinase NCL Palmitoyl protein thioesterase Tripeptidyl peptidase I CLN3 CLN5 CLN6 CLN8 Ceramide synthesis Serine C-palmitoyltransferase (SPTLC1) Ceramide glucosyltransferase (UGCG)

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by adding missing information.

- [v](https://en.wikipedia.org/wiki/Template:Gene-15-stub)
- [t](/source/Template_talk%3AGene-15-stub)
- [e](https://en.wikipedia.org/wiki/Special:EditPage/Template:Gene-15-stub)

---
Adapted from the Wikipedia article [CLN6](https://en.wikipedia.org/wiki/CLN6) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/CLN6?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.