Property Summary

NCBI Gene PubMed Count 21
PubMed Score 36.70
PubTator Score 24.92

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (2)

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.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15455402 2004 Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14607829 2004 Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
12928484 2003 Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10767350 2000 A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
9787083 1998 Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat.
9403059 1997 The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.
9285799 1997 The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
9177788 1997 Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8078902 1994 Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.