CLN5

Ceroid-lipofuscinosis, neuronal 5
Identifiers
Symbols	CLN5 ; NCL; FLJ90628
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4738
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Ceroid-lipofuscinosis, neuronal 5, also known as CLN5, is a human gene.

The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky-Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM]

Further reading

• Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5". Hum. Mutat. 14 (3): 199–215. doi:10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A. PMID 10477428.CS1 maint: Multiple names: authors list (link)
• Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res. 60 (2): 133–40. PMID 10740217.
• Vesa J, Peltonen L (2003). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Curr. Mol. Med. 2 (5): 439–44. PMID 12125809.
• Mole SE (2004). "The genetic spectrum of human neuronal ceroid-lipofuscinoses". Brain Pathol. 14 (1): 70–6. PMID 14997939.
• Carpenter S, Karpati G, Andermann F; et al. (1977). "The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease". Brain. 100 Pt 1: 137–56. PMID 193610.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Savukoski M, Kestilä M, Williams R; et al. (1994). "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am. J. Hum. Genet. 55 (4): 695–701. PMID 7942847.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Klockars T, Savukoski M, Isosomppi J; et al. (1996). "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics. 35 (1): 71–8. doi:10.1006/geno.1996.0324. PMID 8661106.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Savukoski M, Klockars T, Holmberg V; et al. (1998). "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis". Nat. Genet. 19 (3): 286–8. doi:10.1038/975. PMID 9662406.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Heinonen O, Salonen T, Jalanko A; et al. (2000). "CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain". J. Comp. Neurol. 426 (3): 406–12. PMID 10992246.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• Isosomppi J, Vesa J, Jalanko A, Peltonen L (2003). "Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein". Hum. Mol. Genet. 11 (8): 885–91. PMID 11971870.CS1 maint: Multiple names: authors list (link)
• Vesa J, Chin MH, Oelgeschläger K; et al. (2003). "Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3". Mol. Biol. Cell. 13 (7): 2410–20. doi:10.1091/mbc.E02-01-0031. PMID 12134079.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pineda-Trujillo N, Cornejo W, Carrizosa J; et al. (2005). "A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset". Neurology. 64 (4): 740–2. doi:10.1212/01.WNL.0000151974.44980.F1. PMID 15728307.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bessa C, Teixeira CA, Mangas M; et al. (2006). "Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency". Mol. Genet. Metab. 89 (3): 245–53. doi:10.1016/j.ymgme.2006.04.010. PMID 16814585.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ewing RM, Chu P, Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cannelli N, Nardocci N, Cassandrini D; et al. (2007). "Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis". Neuropediatrics. 38 (1): 46–9. doi:10.1055/s-2007-981449. PMID 17607606.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)