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Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6)

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Nclf

Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6)
CCC L355
HGNC 2077
MGI 2159324
PubMed 21549341
RGD 1309714
UniProt Q9NWW5
Wiki CLN6
CLN6 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. CLN6 encodes a deduced 311-amino acid protein with 7 predicted transmembrane domains and a predicted molecular mass of 36 kD. Northern blot analysis detected expression of a major 2.4-kb CLN6 mRNA in adult and embryonic brain and in peripheral tissues of mouse and human. The protein is conserved across vertebrates.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15." Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
  3. "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]
  4. "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein."Exp. Cell Res. 298:399-406(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  7. "Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2."J. Neurosci. Res. 87:2157-2166(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  9. "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]
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "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]
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse."Am. J. Hum. Genet. 70:324-335(2002) [PubMed] [Europe PMC] [Abstract]
  15. "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein."Am. J. Hum. Genet. 70:537-542(2002) [PubMed] [Europe PMC] [Abstract]
  16. "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis."Hum. Mutat. 21:502-508(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis."Hum. Mutat. 22:35-42(2003) [PubMed] [Europe PMC] [Abstract]
  18. "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
  19. "Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6." Am. J. Hum. Genet. 88:566-573(2011) [PubMed] [Europe PMC] [Abstract]
  20. "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]