Property Summary

NCBI Gene PubMed Count 36
Grant Count 23
R01 Count 15
Funding $2,495,124.87
PubMed Score 0.00
PubTator Score 67.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.014 0.002
medulloblastoma, large-cell 1.500 0.000
pituitary cancer 1.300 0.000

Gene RIF (20)

PMID Text
26115733 describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6.
24581221 study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses.
23180398 The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family.
22883287 our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy
22190034 HIV-1 gp160 is identified to have a physical interaction with ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21549341 Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.
21359198 CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.
20020536 Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported.
19520283 three families with CLN6-associated variant late infantile neuronal ceroid lipofuscinosis from Saudi Arabia are described; one had a novel mutation in the CLN6 gene
19201763 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFP      1 - 70
LEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFS     71 - 140
GYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPA    141 - 210
LLLVAPSGLYYWYLVTEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWL    211 - 280
WNDPVLRKKYPGVIYVPEPWAFYTLHVSSRH                                           281 - 311
//

Publication (43)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26115733 2015 Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
24581221 2014 Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
23180398 2013 CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
22883287 2012 Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21549341 2011 Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
More...