CLN3

This article is about the human gene. For other uses, see Cln3 (disambiguation).
Ceroid-lipofuscinosis, neuronal 3
Identifiers
SymbolsCLN3 ; BTS; JNCL
External IDsOMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez120112752
EnsemblENSG00000188603ENSMUSG00000030720
UniProtQ13286Q61124
RefSeq (mRNA)NM_000086NM_001146311
RefSeq (protein)NP_000077NP_001139783
Location (UCSC)Chr 16:
28.48 – 28.5 Mb		Chr 7:
126.57 – 126.59 Mb
PubMed search

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

  1. ↑ 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. ↑ 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