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Ceroid-lipofuscinosis, neuronal 6, late infantile, variant
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| Identifiers | ||
| Symbol(s) | CLN6; FLJ20561; HsT18960 | |
| External IDs | OMIM: 606725 MGI: 2159324 HomoloGene: 9898 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 54982 | 76524 |
| Ensembl | ENSG00000128973 | ENSMUSG00000032245 |
| Uniprot | Q9NWW5 | 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. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
References
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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17453415.
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