Details for: CLN6
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
PubMed ID: 17237713
Title: Neuronal ceroid lipofuscinosis: a common pathway?
PubMed ID: 17237713
PubMed ID: 19941651
Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.
PubMed ID: 19941651
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
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
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.