CLN6

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Identifiers
Symbols	CLN6 ; CLN4A; HsT18960; nclf
External IDs	OMIM: 606725 MGI: 2159324 HomoloGene: 9898 GeneCards: CLN6 Gene
Gene ontology Molecular function • protein binding • protein homodimerization activity Cellular component • nucleoplasm • endoplasmic reticulum • endoplasmic reticulum lumen • endoplasmic reticulum membrane • membrane • integral component of membrane • nuclear membrane • intracellular membrane-bounded organelle Biological process • ganglioside metabolic process • lysosomal lumen acidification • visual perception • cholesterol metabolic process • protein catabolic process • glycosaminoglycan metabolic process • locomotion involved in locomotory behavior • cellular macromolecule catabolic process • positive regulation of proteolysis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	54982	76524
Ensembl	ENSG00000128973	ENSMUSG00000032245
UniProt	Q9NWW5	Q3U466
RefSeq (mRNA)	NM_017882	NM_001033175
RefSeq (protein)	NP_060352	NP_001028347
Location (UCSC)	Chr 15: 68.21 – 68.26 Mb	Chr 9: 62.84 – 62.85 Mb
PubMed search

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.^[1][2][3]

References

1. 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.
2. 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.
3. "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".

External links

• GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses

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: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.
• 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.
• 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.
• 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.