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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COX10 Gene

protein-coding   GIFtS: 59
GCID: GC17P013972

cytochrome c oxidase assembly homolog 10 (yeast)

(Previous names: COX10 (yeast) homolog, cytochrome c oxidase assembly protein...)
 Explore 14 diseases affiliated with
COX10 via our new
 Human Malady Compendium 
Biological research products
for COX10
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cytochrome C Oxidase Assembly Homolog 10 (Yeast)1 2     Cytochrome C Oxidase Assembly Protein2
Heme O Synthase2 3     Cytochrome C Oxidase Subunit X2
COX10 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein (Heme A:
Farnesyltransferase)1
     Heme A: Farnesyltransferase2
COX10 Homolog, Cytochrome C Oxidase Assembly Protein, Heme A:
Farnesyltransferase (Yeast)1
     Protoheme IX Farnesyltransferase, Mitochondrial2
COX10 Homolog, Cytochrome C Oxidase Assembly Protein, Heme A:
Farnesyltransferase2
     EC 2.5.1.-3

External Ids:    HGNC: 22601   Entrez Gene: 13522   Ensembl: ENSG000000066957   OMIM: 6021255   UniProtKB: Q128873   

Export aliases for COX10 gene to outside databases

Previous GC identifers: GC17P014338 GC17P015087 GC17P013915 GC17P014173 GC17P013913


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COX10:
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron
transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic
subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The
mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the
regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a
structural subunit but required for the expression of functional COX and functions in the maturation of the heme A
prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial
inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is
identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with
CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure
palsies) deletion. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
Function: Converts protoheme IX and farnesyl diphosphate to heme O (By similarity)

Gene Wiki entry for COX10


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for COX10
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX10 promoter sequence
   Search SABiosciences Chromatin IP Primers for COX10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX10


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p12

COX10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX10 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P013972:  view genomic region     (about GC identifiers)

Start:
13,972,719 bp from pter      End:
14,111,996 bp from pter
Size:
139,278 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887 (See protein sequence)
Recommended Name: Protoheme IX farnesyltransferase, mitochondrial precursor  
Size: 443 amino acids; 48910 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
Secondary accessions: B2R6U5 O15334 Q969F7

Explore the universe of human proteins at neXtProt for COX10: NX_Q12887

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12887

  • COX10 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001294.2  
    ENSEMBL proteins: 
     ENSP00000397750   ENSP00000261643   ENSP00000462512   ENSP00000462190   ENSP00000439494  
     ENSP00000443354  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: COX10
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    Novus Biologicals COX10 Proteins
    Novus Biologicals COX10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for COX10

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IC14607829
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane IEA--


    COX10 for ontologies           About GeneDecksing



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    ThermoFisher Antibody for COX10

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    Uscn ELISAs and CLIAs for COX10


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    COX10 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006369 Protohaem_IX_farnesylTrfase
     IPR016315 Protohaem_IX_farnesylTrfase_mt
     IPR000537 UbiA_prenyltransferase

    Graphical View of Domain Structure for InterPro Entry Q12887

    ProtoNet protein and cluster: Q12887

    1 Blocks protein family: IPB000537 UbiA prenyltransferase

    UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
    Similarity: Belongs to the UbiA prenyltransferase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
    Function: Converts protoheme IX and farnesyl diphosphate to heme O (By similarity)

         Genatlas biochemistry entry for COX10:
    heme A

    Enzyme Number (IUBMB): EC 2.5.1.-1

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX10
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate COX10:
    hsa-miR-203 hsa-miR-149 hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOX10 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COX10 (see all 4)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX10

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129contributes to cytochrome-c oxidase activity IMP12928484
    GO:0004311farnesyltranstransferase activity TAS8078902
    GO:0008495protoheme IX farnesyltransferase activity IEA--


    COX10 for ontologies           About GeneDecksing


    Animal Models:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cox10):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  skeleton 

    COX10 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway1.00
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.63
    3Metabolism
    Metabolic pathways0.38
    4Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for COX10
        AMPK Enzyme Complex Pathway


    3         Kegg Pathways  (Kegg details for COX10):
        Oxidative phosphorylation
    Porphyrin and chlorophyll metabolism
    Metabolic pathways


    COX10 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COX10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/53 Interacting proteins for COX10 (Q128873 ENSP000002616434) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX11Q9Y6N13, ENSP000002993354I2D: score=2 STRING: ENSP00000299335
    COX15Q7KZN93, ENSP000000161714I2D: score=2 STRING: ENSP00000016171
    ATP5A1P257053, ENSP000002820504I2D: score=1 STRING: ENSP00000282050
    CCBL1Q167733, ENSP000003022274I2D: score=1 STRING: ENSP00000302227
    XRCC6BP1Q9Y6H33, ENSP000003001454I2D: score=1 STRING: ENSP00000300145
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IEA--
    GO:0006123mitochondrial electron transport, cytochrome c to oxygen IC12928484
    GO:0006784heme a biosynthetic process IMP12928484
    GO:0007005mitochondrion organization ----
    GO:0008535respiratory chain complex IV assembly IMP14607829


    COX10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COX10

    1 HMDB Compound for COX10    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Search CenterWatch for drugs/clinical trials and news about COX10 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COX10 gene: 
    NM_001303.3  

    Unigene Cluster for COX10:

    Cytochrome c oxidase assembly homolog 10 (yeast)
    Hs.462278  [show with all ESTs]
    Unigene Representative Sequence: NM_001303
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429152 ENST00000261643(uc002gof.4 uc010vvs.2 uc010vvt.2)
    ENST00000581931 ENST00000580561 ENST00000536205 ENST00000537334

    miRNA
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    hsa-miR-203 hsa-miR-149 hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOX10 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX10

    Additional cDNA sequence: 

    AK294213.1 AK295925.1 AK312718.1 BC000060.2 BC006394.2 BT006985.1 U09466.1 

    3 DOTS entries:

    DT.115568  DT.40116495  DT.91764152 

    24/157 AceView cDNA sequences (see all 157):

    AI278418 BM759715 BG251989 BQ050769 AA465683 AU132781 NM_001303 BE886560 
    AI269656 BM839014 AA573511 BM836347 AI355181 BM721108 BM793470 AU130428 
    AI915304 AA181301 AI362895 AI332955 BM833200 AI393884 BX506067 BE256423 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COX10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCAATGGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See COX10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX10

    SOURCE GeneReport for Unigene cluster: Hs.462278
        SABiosciences Expression via Pathway-Focused PCR Array including COX10: 
              Mitochondria in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for COX10 gene from 11/36 species (see all 36)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox101 , 5 COX10 homolog, cytochrome c oxidase assembly protein, more5
    cytochrome c oxidase assembly protein 101
    81.37(n)1
    82.35(a)1
      11 (39.47 cM)5
    703831  NM_178379.31  NP_848466.11 
     639626275 
    chicken
    (Gallus gallus)
    Aves COX101 COX10 homolog, cytochrome c oxidase assembly protein, more 73.09(n)
    72.84(a)
      417329  NM_001030700.1  NP_001025871.1 
    lizard
    (Anolis carolinensis)
    Reptilia COX106
    --
    70(a)
    1 ↔ 1
    2(106956463-107096337)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37272 Xenopus laevis transcribed sequence with moderate similarity more 78.48(n)    BG579071.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb18a032 Transcribed sequence with moderate similarity to protein more 75.87(n)    CK027565.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50371 , 3 protoheme IX farnesyltransferase3
    CG50371
    58(a)3
    60.14(n)1
    59.79(a)1
      31D93
    343941  NM_135538.21  NP_609382.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.23
    CELE_Y46G5A.21
    Protein Y46G5A.21 52(a)3
    53.79(n)1
    47.98(a)1
      II(12681627-12685676)3
    1748991  NM_064307.41  NP_496708.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COX10(YPL172C)4
    COX101
    Heme A:farnesyltransferase, catalyzes the first step more4
    Cox10p1
    45.29(n)1
    36.62(a)1
      16(225741-224353)4
    8559311, 4  NP_015153.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons COX106
    protoheme IX farnesyltransferase
    26(a)
    1 ↔ 1
    2(18379564-18381942)
    rice
    (Oryza sativa)
    Liliopsida --
    prenyltransferase, putative, expressed
    28(a)
    1 ↔ 1
    1(18960273-18967960)


    ENSEMBL Gene Tree for COX10 (if available)
    TreeFam Gene Tree for COX10 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COX10 gene

    COX10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COX10
    PGOHUM00000238353


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2462 NCBI SNPs in COX10 are shown (see all 2462    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945551,2
    Cpathogenic13900925(+) TGGGAA/CAGGCC 2 K T mis10--------
    rs1048945601,2
    Cpathogenic13900950(+) GCCAAA/CTCCAT 2 K N mis10--------
    rs1048945561,2
    C,pathogenic13958628(+) CAGACC/TGCTGG 2 P L mis10--------
    rs754245671,2
    F,--13866247(+) CTTAGG/CTGAGT 1 -- us2k11Minor allele frequency- C:0.08NA 120
    rs739791501,2
    C,--13866466(+) TTTAAC/AGTAGT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs745076311,2
    --13866965(+) GGGGGG/TGTCTT 1 -- us2k10--------
    rs776984771,2
    F,--13867388(+) GTCAAA/GAGGCC 1 -- us2k11Minor allele frequency- G:0.08WA 118
    rs1135732501,2
    F--13867795(+) CCACCG/ACACCT 1 -- us2k12Minor allele frequency- A:0.50CSA 4
    rs791286071,2
    F,--13867927(+) AGCCAC/TAGCGC 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs286809871,2
    C,F,--13868219(+) TGACGG/ACCCGG 1 -- ut51 ese36Minor allele frequency- A:0.14NA WA 246

    HapMap Linkage Disequilibrium report for COX10 (13972719 - 14111996 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for COX10
         4 CNVs: 4022 3138 49816 32151
    Human Gene Mutation Database (HGMD): COX10

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COX10
    DNA2.0 Custom Variant and Variant Library Synthesis for COX10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    COX10 for disorders           About GeneDecksing

    OMIM gene information: 602125    OMIM disorders: --

    UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
  • Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as
  • cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical
    manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs.
    Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness,
    excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients
    manifest Leigh syndrome
  • Defects in COX10 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder
  • characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions

    14 diseases for COX10:    About MalaCards
    hereditary neuropathy with liability to pressure palsy    hereditary neuropathy with liability to pressure palsies    encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency    hereditary neuropathies
    neuropathy    leigh disease    myopathy    hypotonia
    alzheimer's disease    hypoxia    tuberculosis    hepatitis
    malaria    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for COX10:
    Leigh disease

    4 Novoseek disease relationships for COX10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 93.3 2 10767350 (1), 16103131 (1)
    charcot-marie-tooth disease 75.3 1 9403059 (1)
    mitochondrial diseases 73.8 1 16103131 (1)
    myopathy 55.1 1 16103131 (1)

    Human Genome Epidemiology (HuGE) Navigator: COX10 (2 documents)

    Export disorders for COX10 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COX10 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with COX10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. (PubMed id 9177788)1, 2, 3, 9 Murakami T.... Lupski J.R. (1997)
    2. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. (PubMed id 10767350)1, 2, 9 Valnot I....Rotig A. (2000)
    3. Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. (PubMed id 8078902)1, 2, 9 Glerum M.D. and Tzagoloff A. (1994)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. 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. (PubMed id 12928484)1, 2 Antonicka H.... Shoubridge E.A. (2003)
    6. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. (PubMed id 9285799)1, 9 Reiter L.T....Lupski J.R. (1997)
    7. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. (PubMed id 9403059)1, 9 Kennerson M.L....Nicholson G.A. (1997)
    8. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. (PubMed id 15455402)1, 9 Coenen M.J....Smeitink J.A. (2004)
    9. Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. (PubMed id 14607829)1, 9 Williams S.L....Taanman J.W. (2004)
    10. Expression of the alternative oxidase complements cyt ochrome c oxidase deficiency in human cells. (PubMed id 20049701)1, 9 Dassa E.P....Rustin P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1352 HGNC: 2260 AceView: COX10 Ensembl:ENSG00000006695 euGenes: HUgn1352
    ECgene: COX10 Kegg: 1352 H-InvDB: COX10

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COX10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COX10

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COX10 gene:
    Search GeneIP for patents involving COX10

    GeneCards and IP:
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