CLN6
| CLN6 | |||
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Gene ontology | |||
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| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl |
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| UniProt |
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| RefSeq (protein) |
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| Location (UCSC) | n/a | Chr 9: 62.75 – 62.76 Mb | |||||||
| PubMed search | [2] | [3] | |||||||
| View/Edit Human | View/Edit Mouse |
Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[4][5][6]
The CLN6 protein is part of the
Golgi complex.[7] The EGRESS complex is composed of CLN6 and 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
References
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032245 – Ensembl, May 2017
- ^ "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.
- PMID 9097964.
- PMID 11727201.
- ^ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".
- ^ PMID 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. S2CID 28786470.
- Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I (2001). "Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)". Eur. J. Biochem. 268 (22): 5851–6. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. S2CID 35490146.
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.
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