Details for: CLN6

Gene ID: 54982

Symbol: CLN6

Ensembl ID: ENSG00000128973

Description: CLN6 transmembrane ER protein

Associated with

Other Information

Genular Protein ID: 1918537754

Symbol: CLN6_HUMAN

Name: Ceroid-lipofuscinosis neuronal protein 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15265688

Title: CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.

PubMed ID: 15265688

DOI: 10.1016/j.yexcr.2004.04.042

PubMed ID: 17237713

Title: Neuronal ceroid lipofuscinosis: a common pathway?

PubMed ID: 17237713

DOI: 10.1203/pdr.0b013e31802d8a4a

PubMed ID: 19941651

Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.

PubMed ID: 19941651

DOI: 10.1186/1471-2121-10-83

PubMed ID: 19235893

Title: Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.

PubMed ID: 19235893

DOI: 10.1002/jnr.22032

PubMed ID: 20430023

Title: TRAM1 is involved in disposal of ER membrane degradation substrates.

PubMed ID: 20430023

DOI: 10.1016/j.yexcr.2010.04.010

PubMed ID: 11791207

Title: Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

PubMed ID: 11791207

DOI: 10.1086/338190

PubMed ID: 11727201

Title: The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

PubMed ID: 11727201

DOI: 10.1086/338708

PubMed ID: 12673792

Title: Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 12673792

DOI: 10.1002/humu.10207

PubMed ID: 12815591

Title: Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 12815591

DOI: 10.1002/humu.10227

PubMed ID: 19201763

Title: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 19201763

DOI: 10.1093/brain/awn366

PubMed ID: 21549341

Title: Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

PubMed ID: 21549341

DOI: 10.1016/j.ajhg.2011.04.004

PubMed ID: 21990111

Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PubMed ID: 21990111

DOI: 10.1002/humu.21624

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 311
  • Mass: 35919
  • Checksum: C718E6F2DC20CE0F
  • Sequence:
  • MEATRRRQHL GATGGPGAQL GASFLQARHG SVSADEAART APFHLDLWFY FTLQNWVLDF 
    GRPIAMLVFP LEWFPLNKPS VGDYFHMAYN VITPFLLLKL IERSPRTLPR SITYVSIIIF 
    IMGASIHLVG DSVNHRLLFS GYQHHLSVRE NPIIKNLKPE TLIDSFELLY YYDEYLGHCM 
    WYIPFFLILF MYFSGCFTAS KAESLIPGPA LLLVAPSGLY YWYLVTEGQI FILFIFTFFA 
    MLALVLHQKR KRLFLDSNGL FLFSSFALTL LLVALWVAWL WNDPVLRKKY PGVIYVPEPW 
    AFYTLHVSSR H

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.