CLN3
From Wikipedia, the free encyclopedia
Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.[1][2]
Function
Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.[2]
Clinical significance
Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.
References
- ↑ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (Jun 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatr Res 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.
- ↑ 2.0 2.1 "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".
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.
- 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. doi:10.2174/1566524023362311. 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". Cell 82 (6): 949–57. 1995. doi:10.1016/0092-8674(95)90274-0. 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. PMC 1801154. 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. doi:10.1016/S0014-5793(96)01290-2. 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. doi:10.1136/jmg.33.12.1041. PMC 1050819. 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. doi:10.1086/514846. PMC 1715900. 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. doi:10.1093/hmg/7.1.85. 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. doi:10.1007/s004390050654. 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. doi:10.1093/hmg/8.3.523. 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. doi:10.1093/hmg/8.6.1091. 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. doi:10.1203/00006450-199910000-00003. PMID 10509355.
- 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.
External links
- CLN3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses
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