CLN3

From Wikipedia, the free encyclopedia

Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)

Identifiers

CLN3; BTS; MGC102840

External IDs

OMIM: 607042 MGI: 107537 HomoloGene: 37259

Gene ontology
Molecular Function:	• unfolded protein binding
Cellular Component:	• Golgi membrane • membrane fraction • nucleus • cytoplasm • mitochondrion • lysosome • early endosome • late endosome • endoplasmic reticulum • Golgi apparatus • Golgi stack • trans-Golgi network • plasma membrane • caveola • synaptic vesicle • membrane • integral to membrane • integral to endoplasmic reticulum membrane • neuron projection • lipid raft
Biological Process:	• regulation of action potential • globoside metabolic process • protein folding • amino acid metabolic process • glucosylceramide metabolic process • galactosylceramide metabolic process • sphingomyelin metabolic process • amino acid transport • receptor-mediated endocytosis • lysosomal lumen acidification • associative learning • arginine transport • membrane organization and biogenesis • macroautophagy • protein processing • protein catabolic process • ionotropic glutamate receptor signaling pathway • neurotransmitter metabolic process • amyloid precursor protein catabolic process • negative regulation of apoptosis • negative regulation of proteolysis • regulation of balance • regulation of cellular pH

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000086 (mRNA)
NP_000077 (protein)

XM_993441 (mRNA)
XP_998535 (protein)

Location

Chr 16: 28.4 - 28.41 Mb

Chr 7: 126.36 - 126.37 Mb

Pubmed search

[1]

[2]

Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease), also known as CLN3, is a human gene.^[1]

CLN3 is a protein on chromosome 16. It is associated with Batten disease.CLN3 is commonly referred to as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.^[1]

[edit] References

^ ^a ^b Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease).

[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.
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.
Phillips SN, Benedict JW, Weimer JM, Pearce DA (2005). "CLN3, the protein associated with batten disease: structure, function and localization.". J. Neurosci. Res. 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902.
"Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium." (1995). Cell 82 (6): 949–57. PMID 7553855.
Taschner PE, de Vos N, Thompson AD, et al. (1995). "Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).". Am. J. Hum. Genet. 56 (3): 663–8. PMID 7887420.
Janes RW, Munroe PB, Mitchison HM, et al. (1997). "A model for Batten disease protein CLN3: functional implications from homology and mutations.". FEBS Lett. 399 (1-2): 75–7. PMID 8980123.
Järvelä I, Mitchison HM, Munroe PB, et al. (1997). "Rapid diagnostic test for the major mutation underlying Batten disease.". J. Med. Genet. 33 (12): 1041–2. PMID 9004140.
Mitchison HM, Munroe PB, O'Rawe AM, et al. (1997). "Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.". Genomics 40 (2): 346–50. doi:10.1006/geno.1996.4576. PMID 9119403.
Munroe PB, Mitchison HM, O'Rawe AM, et al. (1997). "Spectrum of mutations in the Batten disease gene, CLN3.". Am. J. Hum. Genet. 61 (2): 310–6. PMID 9311735.
Järvelä I, Sainio M, Rantamäki T, et al. (1998). "Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.". Hum. Mol. Genet. 7 (1): 85–90. PMID 9384607.
Wisniewski KE, Zhong N, Kaczmarski W, et al. (1998). "Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.". Ann. Neurol. 43 (1): 106–10. doi:10.1002/ana.410430118. PMID 9450775.
Zhong N, Wisniewski KE, Kaczmarski AL, et al. (1998). "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.". Hum. Genet. 102 (1): 57–62. PMID 9490299.
Kremmidiotis G, Lensink IL, Bilton RL, et al. (1999). "The Batten disease gene product (CLN3p) is a Golgi integral membrane protein.". Hum. Mol. Genet. 8 (3): 523–31. PMID 9949212.
Haskell RE, Derksen TA, Davidson BL (1999). "Intracellular trafficking of the JNCL protein CLN3.". Mol. Genet. Metab. 66 (4): 253–60. doi:10.1006/mgme.1999.2802. PMID 10191111.
Kaczmarski W, Wisniewski KE, Golabek A, et al. (1999). "Studies of membrane association of CLN3 protein.". Mol. Genet. Metab. 66 (4): 261–4. doi:10.1006/mgme.1999.2833. PMID 10191112.
Golabek AA, Kaczmarski W, Kida E, et al. (1999). "Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro.". Mol. Genet. Metab. 66 (4): 277–82. doi:10.1006/mgme.1999.2836. PMID 10191115.
Margraf LR, Boriack RL, Routheut AA, et al. (1999). "Tissue expression and subcellular localization of CLN3, the Batten disease protein.". Mol. Genet. Metab. 66 (4): 283–9. doi:10.1006/mgme.1999.2830. PMID 10191116.
Järvelä I, Lehtovirta M, Tikkanen R, et al. (1999). "Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)". Hum. Mol. Genet. 8 (6): 1091–8. PMID 10332042.
Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.". Genomics 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
Pane MA, Puranam KL, Boustany RM (2004). "Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain.". Pediatr. Res. 46 (4): 367–74. PMID 10509355.

[edit] External links

MeSH CLN3+protein,+human
Phillips S, Benedict J, Weimer J, Pearce D (2005). "CLN3, the protein associated with batten disease: structure, function and localization.". J Neurosci Res 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902.