Property Summary

NCBI Gene PubMed Count 21
Grant Count 22
R01 Count 13
Funding $2,557,140.17
PubMed Score 36.70
PubTator Score 24.92

Knowledge Summary

Patent

No data available

Expression

Gene RIF (10)

PMID Text
25766330 On the basis of its pivotal role in regulating cell death upon COX dysfunction, CerS6 might potentially represent a novel target for therapeutic intervention in mitochondrial diseases caused by COX dysfunction.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20498629 ISCU and COX10 are target genes of miR-210 related to mitochondrial metabolism
20049701 The expression of the AOX, well-tolerated by the cells, compensates for both the growth defect and the pronounced oxidant-sensitivity of COX-deficient human cells.
19826901 COX 15 mRNA was significantly more abundant in the cerebral tissue of Alzheimer's disease (AD) patients and COX10 and COX15 SNP were significantly less represented in the patient group, suggesting a possible protective role toward the risk for AD
19826901 Observational study of gene-disease association. (HuGE Navigator)
17192483 Geranylgeranyltransferase inhibitor-2147 (GGTI-2147), an inhibitor of this enzyme prenylation, elicited significant inhibition of glucose-stimulated insulin secretion from INS 832/13 islet cells.
15455402 This study report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon.
12928484 COX10 has a role in mitochondrial heme A biosynthesis
11959398 Cytochrome c oxidase is decreased significantly in platelets and hippocampus in Alzheimer patients compared to controls.

AA Sequence

MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQ      1 - 70
QVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEE     71 - 140
KRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFF    141 - 210
EVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRI    211 - 280
SIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHP    281 - 350
GLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLP    351 - 420
LLLLLMLTCKRPSGGGDAGPPPS                                                   421 - 443
//

Text Mined References (24)

PMID Year Title
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
25766330 2015 Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6.
22832960 2012 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20498629 2010 Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.
20049701 2009 Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.
19826901 2009 Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.
17192483 2007 Dominant-negative alpha-subunit of farnesyl- and geranyltransferase inhibits glucose-stimulated, but not KCl-stimulated, insulin secretion in INS 832/13 cells.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
More...