Property Summary

NCBI Gene PubMed Count 8
Grant Count 8
R01 Count 4
Funding $211,567.12
PubMed Score 18.13
PubTator Score 7.28

Knowledge Summary

Patent

No data available

Expression

Gene RIF (3)

PMID Text
24763291 Data indicate a heterozygous loss-of-function coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation in familial schwannomatosis.
21540551 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGGLVGAAMACALGYDIHFHDKKILLLEA      1 - 70
GPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQVWDACSEALIMFDKDNLDDMG     71 - 140
YIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQTKLLIGADGH    141 - 210
NSGVRQAVGIQNVSWNYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAE    211 - 280
LVSMDEEKFVDAVNSAFWSDADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGL    281 - 350
GHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHN    351 - 420
TALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK                          421 - 468
//

Text Mined References (13)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24763291 2014 A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.
24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
More...