CLN6

From Wikipedia, the free encyclopedia

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant

Identifiers

CLN6; FLJ20561; HsT18960

External IDs

OMIM: 606725 MGI: 2159324 HomoloGene: 9898

Gene ontology
Molecular Function:	• protein homodimerization activity
Cellular Component:	• endoplasmic reticulum • endoplasmic reticulum lumen • membrane • integral to membrane
Biological Process:	• ganglioside metabolic process • lysosomal lumen acidification • cholesterol metabolic process • protein catabolic process • glycosaminoglycan metabolic process • positive regulation of proteolysis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_017882 (mRNA)
NP_060352 (protein)

NM_001033175 (mRNA)
NP_001028347 (protein)

Location

Chr 15: 66.29 - 66.31 Mb

Chr 9: 62.64 - 62.65 Mb

Pubmed search

[1]

[2]

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant, also known as CLN6, is a human gene.^[1]

[edit] References

^ Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant.

[edit] Further reading

Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes.". J. Neurosci. Res. 60 (2): 133–40. PMID 10740217.
Sharp JD, Wheeler RB, Lake BD, et al. (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. PMID 9097964.
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.
Wheeler RB, Sharp JD, Schultz RA, et al. (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. PMID 11727201.
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. doi:10.1073/pnas.242603899. 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. 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.