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Battenin (BTS)

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CLN3; JNCL; Batten disease protein; Ceroid-Lipofuscinosis,Neuronal 3,Juvenile; Batten,Spielmeyer-Vogt Disease; Juvenile Neuronal Ceroid Lipofuscinosis

Battenin (BTS)
CCC G772
HGNC 2074
MGI 107537
PubMed 18317235
RGD 1359537
UniProt Q13286
Wiki Battenin
CLN3 is commonly referred to as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease. 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.The consortium used exon amplification of a cosmid that contained D16S298, which yielded a candidate gene that was disrupted by a 1-kb genomic deletion in all patients carrying the 56 chromosome. Three separate deletions and a point mutation altering a splice site in 3 unrelated families confirmed the candidate as the CLN3 gene. The disease gene encodes a deduced 438-amino acid protein.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Battenin (BTS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Battenin (BTS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Battenin (BTS) Polyclonal Antibody Customized Service Offer
Assay Kits SEG772Hu ELISA Kit for Battenin (BTS) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Battenin (BTS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Battenin (BTS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Battenin (BTS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Battenin (BTS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Battenin (BTS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Battenin (BTS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Battenin (BTS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Battenin (BTS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Battenin (BTS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Battenin (BTS) ELISA Kit Customized Service Offer
  1. "Isolation of a novel gene underlying Batten disease, CLN3." Cell 82:949-957(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3."Genomics 40:346-350(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q."Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract]
  5. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro."Mol. Genet. Metab. 66:277-282(1999) [PubMed] [Europe PMC] [Abstract]
  8. "An unappreciated role for RNA surveillance."Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  10. "C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes."Traffic 8:431-444(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  12. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  13. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments."Cell. Mol. Life Sci. 69:2075-2089(2012) [PubMed] [Europe PMC] [Abstract]
  18. "FRET-assisted determination of CLN3 membrane topology."PLoS ONE 9:E102593-E102593(2014) [PubMed] [Europe PMC] [Abstract]
  19. "Spectrum of mutations in the Batten disease gene, CLN3."Am. J. Hum. Genet. 61:310-316(1997) [PubMed] [Europe PMC] [Abstract]
  20. "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene."Hum. Genet. 102:57-62(1998) [PubMed] [Europe PMC] [Abstract]
  21. "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]