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Gene ID: 56652 | C10orf2 Antibody Resource


C10orf2 Antibody Resource
Gene Full Name: 
chromosome 10 open reading frame 2
Uniprot: 
Q96RR1
Protein Name: 
twinkle protein, mitochondrial
Nucleotide: 
NM_001163812
Alias: 
PEO;PEO1;SCA8;ATXN8;IOSCA;PEOA3;SANDO;TWINL;MTDPS7;
Ensembl: 
ENSG00000107815
Location: 
10q24
HPRD: 
05830
NCBI Gene: 
56652
MIM: 
606075

Summary: 
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
Function: 
Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.
Subcellular location: 
Mitochondrion matrix › mitochondrion nucleoid. Note: Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.
PTM: 
Disease: 
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Note: The disease is caused by mutations affecting the gene represented in this entry. Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. Note: The disease is caused by mutations affecting the gene represented in this entry. Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP36483_P050 PEO1 antibody - middle region (ARP36483_P050) Polyclonal Human, Mouse, Rat WB 50ug $289 Details
Polyclonal Antibody ARP36482_P050 PEO1 antibody - middle region (ARP36482_P050) Polyclonal Human, Mouse, Rat WB 50ug $289 Details

Show all C10orf2 antibodies


Product Images
PEO1 antibody - middle region (ARP36482_P050) in Human Jurkat cells using Western Blot

Sample Type: Human Jurkat

PEO1 antibody - middle region (ARP36483_P050) in Hela cells using Western Blot

Sample Type: Hela

PEO1 antibody - middle region (ARP36483_P050) in Human Jurkat cells using Western Blot

Sample Type: Human Jurkat


C10orf2 Protocols

Publications
Related Gene Trend Categories
Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP36483 Cat C10orf2 antibody; Felis catus C10orf2 antibody M3WN33 100.0%
ARP36482 Chimpanzee C10orf2 antibody; Pan troglodytes C10orf2 antibody H2R7G8 100.0%
ARP36483 Chimpanzee C10orf2 antibody; Pan troglodytes C10orf2 antibody H2R7G8 100.0%
ARP36483 Chinese softshell turtle C10orf2 antibody; Pelodiscus sinensis C10orf2 antibody K7FHZ9 79.0%
ARP36483 Collared flycatcher C10orf2 antibody; Ficedula albicollis C10orf2 antibody U3K1Z9 93.0%
ARP36483 Dog C10orf2 antibody; Canis familiaris C10orf2 antibody E2RN86 100.0%
ARP36483 Domestic duck C10orf2 antibody; Anas platyrhynchos C10orf2 antibody U3I965 93.0%
ARP36483 Domestic duck C10orf2 antibody; Anas platyrhynchos C10orf2 antibody U3I968 93.0%
ARP36483 European domestic ferret C10orf2 antibody; Mustela putorius furo C10orf2 antibody M3YZS6 100.0%
ARP36483 Giant panda C10orf2 antibody; Ailuropoda melanoleuca C10orf2 antibody D2GXU0 100.0%
ARP36483 Gray short-tailed opossum C10orf2 antibody; Monodelphis domestica C10orf2 antibody F7CUW8 93.0%
ARP36483 Horse C10orf2 antibody; Equus caballus C10orf2 antibody F6SPL7 100.0%
ARP36482 Human C10orf2 antibody; Homo sapiens C10orf2 antibody Q9H6V3 100.0%
ARP36483 Human C10orf2 antibody; Homo sapiens C10orf2 antibody Q9H6V3 100.0%
ARP36483 Pig C10orf2 antibody; Sus scrofa C10orf2 antibody I3LNP8 100.0%
ARP36482 Pig C10orf2 antibody; Sus scrofa C10orf2 antibody I3LNP8 79.0%
ARP36483 Rabbit C10orf2 antibody; Oryctolagus cuniculus C10orf2 antibody G1SI82 100.0%
ARP36483 Rhesus macaque C10orf2 antibody; Macaca mulatta C10orf2 antibody H9Z0D9 100.0%
ARP36482 Rhesus macaque C10orf2 antibody; Macaca mulatta C10orf2 antibody H9Z0D9 93.0%
ARP36483 Sea lamprey C10orf2 antibody; Petromyzon marinus C10orf2 antibody S4R640 86.0%
ARP36483 Small-eared galago C10orf2 antibody; Otolemur garnettii C10orf2 antibody H0Y0D9 100.0%
ARP36482 Small-eared galago C10orf2 antibody; Otolemur garnettii C10orf2 antibody H0Y0D9 86.0%
ARP36483 Southern platyfish C10orf2 antibody; Xiphophorus maculatus C10orf2 antibody M4AT92 93.0%
ARP36483 Spotted green pufferfish C10orf2 antibody; Tetraodon nigroviridis C10orf2 antibody H3DAA3 79.0%
ARP36482 Sumatran orangutan C10orf2 antibody; Pongo abelii C10orf2 antibody H2NBC0 100.0%
ARP36483 Sumatran orangutan C10orf2 antibody; Pongo abelii C10orf2 antibody H2NBC0 93.0%
ARP36483 Tasmanian devil C10orf2 antibody; Sarcophilus harrisii C10orf2 antibody G3WL71 93.0%
ARP36483 Thirteen-lined ground squirrel C10orf2 antibody; Spermophilus tridecemlineatus C10orf2 antibody I3MCS7 100.0%
ARP36482 Thirteen-lined ground squirrel C10orf2 antibody; Spermophilus tridecemlineatus C10orf2 antibody I3MCS7 86.0%
ARP36483 Three-spined stickleback C10orf2 antibody; Gasterosteus aculeatus C10orf2 antibody G3NGY2 86.0%
ARP36483 Western clawed frog C10orf2 antibody; Xenopus tropicalis C10orf2 antibody F7A002 93.0%
ARP36483 White-tufted-ear marmoset C10orf2 antibody; Callithrix jacchus C10orf2 antibody U3FKS4 100.0%
ARP36482 White-tufted-ear marmoset C10orf2 antibody; Callithrix jacchus C10orf2 antibody U3FKS4 86.0%

Tissue & Cell Line Gene Expression Data
Data SourceProbesetSampleAvgMeanMore Info
BioGPS Gene Atlas218590_at721_B_lymphoblasts35.1009.330Details
BioGPS Gene Atlas218590_atAdipocyte4.6009.330Details
BioGPS Gene Atlas218590_atAdrenalCortex5.1009.330Details
BioGPS Gene Atlas218590_atAdrenalgland4.0509.330Details
BioGPS Gene Atlas218590_atAmygdala4.7009.330Details
BioGPS Gene Atlas218590_atAppendix4.7509.330Details
BioGPS Gene Atlas218590_atAtrioventricularNode3.7009.330Details
BioGPS Gene Atlas218590_atBDCA4+_DentriticCells14.6509.330Details
BioGPS Gene Atlas218590_atBonemarrow4.6009.330Details
BioGPS Gene Atlas218590_atBronchialEpithelialCells4.6009.330Details
BioGPS Gene Atlas218590_atCD105+_Endothelial113.7509.330Details
BioGPS Gene Atlas218590_atCD14+_Monocytes5.2009.330Details
BioGPS Gene Atlas218590_atCD19+_BCells(neg._sel.)39.5509.330Details
BioGPS Gene Atlas218590_atCD33+_Myeloid16.5009.330Details
BioGPS Gene Atlas218590_atCD34+140.1509.330Details
BioGPS Gene Atlas218590_atCD4+_Tcells7.1009.330Details
BioGPS Gene Atlas218590_atCD56+_NKCells13.9009.330Details
BioGPS Gene Atlas218590_atCD71+_EarlyErythroid5.6009.330Details
BioGPS Gene Atlas218590_atCD8+_Tcells9.5009.330Details
BioGPS Gene Atlas218590_atCardiacMyocytes6.1509.330Details
BioGPS Gene Atlas218590_atCaudatenucleus4.0509.330Details
BioGPS Gene Atlas218590_atCerebellum3.7509.330Details
BioGPS Gene Atlas218590_atCerebellumPeduncles5.4009.330Details
BioGPS Gene Atlas218590_atCiliaryGanglion3.4009.330Details
BioGPS Gene Atlas218590_atCingulateCortex4.8509.330Details
BioGPS Gene Atlas218590_atColorectaladenocarcinoma4.6509.330Details
BioGPS Gene Atlas218590_atDorsalRootGanglion5.4509.330Details
BioGPS Gene Atlas218590_atFetalThyroid4.5509.330Details
BioGPS Gene Atlas218590_atFetalbrain4.5509.330Details
BioGPS Gene Atlas218590_atFetalliver4.0509.330Details
BioGPS Gene Atlas218590_atFetallung3.6509.330Details
BioGPS Gene Atlas218590_atGlobusPallidus3.5509.330Details
BioGPS Gene Atlas218590_atHeart6.0509.330Details
BioGPS Gene Atlas218590_atHypothalamus5.0509.330Details
BioGPS Gene Atlas218590_atKidney3.7509.330Details
BioGPS Gene Atlas218590_atLeukemia_chronicMyelogenousK-5625.0509.330Details
BioGPS Gene Atlas218590_atLeukemia_promyelocytic-HL-6023.9009.330Details
BioGPS Gene Atlas218590_atLeukemialymphoblastic(MOLT-4)14.0009.330Details
BioGPS Gene Atlas218590_atLiver6.2509.330Details
BioGPS Gene Atlas218590_atLung5.1009.330Details
BioGPS Gene Atlas218590_atLymphnode3.8009.330Details
BioGPS Gene Atlas218590_atLymphoma_burkitts(Daudi)30.2009.330Details
BioGPS Gene Atlas218590_atLymphoma_burkitts(Raji)6.7009.330Details
BioGPS Gene Atlas218590_atMedullaOblongata4.2509.330Details
BioGPS Gene Atlas218590_atOccipitalLobe4.1009.330Details
BioGPS Gene Atlas218590_atOlfactoryBulb3.6009.330Details
BioGPS Gene Atlas218590_atOvary3.1009.330Details
BioGPS Gene Atlas218590_atPancreas3.8009.330Details
BioGPS Gene Atlas218590_atPancreaticIslet5.0509.330Details
BioGPS Gene Atlas218590_atParietalLobe4.9009.330Details
BioGPS Gene Atlas218590_atPituitary5.4009.330Details
BioGPS Gene Atlas218590_atPlacenta4.5509.330Details
BioGPS Gene Atlas218590_atPons4.4509.330Details
BioGPS Gene Atlas218590_atPrefrontalCortex5.6009.330Details
BioGPS Gene Atlas218590_atProstate5.4509.330Details
BioGPS Gene Atlas218590_atSalivarygland3.8509.330Details
BioGPS Gene Atlas218590_atSkeletalMuscle5.6009.330Details
BioGPS Gene Atlas218590_atSkin3.6509.330Details
BioGPS Gene Atlas218590_atSmoothMuscle5.2509.330Details
BioGPS Gene Atlas218590_atSpinalcord4.9509.330Details
BioGPS Gene Atlas218590_atSubthalamicNucleus7.0509.330Details
BioGPS Gene Atlas218590_atSuperiorCervicalGanglion5.3509.330Details
BioGPS Gene Atlas218590_atTemporalLobe4.3009.330Details
BioGPS Gene Atlas218590_atTestis4.4509.330Details
BioGPS Gene Atlas218590_atTestisGermCell5.2009.330Details
BioGPS Gene Atlas218590_atTestisIntersitial3.9509.330Details
BioGPS Gene Atlas218590_atTestisLeydigCell4.6009.330Details
BioGPS Gene Atlas218590_atTestisSeminiferousTubule4.0509.330Details
BioGPS Gene Atlas218590_atThalamus4.7509.330Details
BioGPS Gene Atlas218590_atThymus3.6509.330Details
BioGPS Gene Atlas218590_atThyroid5.6509.330Details
BioGPS Gene Atlas218590_atTongue4.6009.330Details
BioGPS Gene Atlas218590_atTonsil4.5009.330Details
BioGPS Gene Atlas218590_atTrachea3.9009.330Details
BioGPS Gene Atlas218590_atTrigeminalGanglion7.0509.330Details
BioGPS Gene Atlas218590_atUterus3.6009.330Details
BioGPS Gene Atlas218590_atUterusCorpus4.2009.330Details
BioGPS Gene Atlas218590_atWholeBlood4.9509.330Details
BioGPS Gene Atlas218590_atWholebrain3.8009.330Details
BioGPS Gene Atlas218590_atcolon4.6009.330Details
BioGPS Gene Atlas218590_atpineal_day5.8009.330Details
BioGPS Gene Atlas218590_atpineal_night5.6009.330Details
BioGPS Gene Atlas218590_atretina5.5759.330Details
BioGPS Gene Atlas218590_atsmall_intestine4.4009.330Details
BioGPS NCI60218590_at78610.60329.550Details
BioGPS NCI60218590_atA17221.66029.550Details
BioGPS NCI60218590_atA2047.49829.550Details
BioGPS NCI60218590_atA3617.40229.550Details
BioGPS NCI60218590_atA4985.94829.550Details
BioGPS NCI60218590_atA54914.03729.550Details
BioGPS NCI60218590_atACC314.80129.550Details
BioGPS NCI60218590_atACHN31.51329.550Details
BioGPS NCI60218590_atALVA3141.00229.550Details
BioGPS NCI60218590_atCAKI111.98629.550Details
BioGPS NCI60218590_atCCRT CEM3.48029.550Details
BioGPS NCI60218590_atCOLO20531.12629.550Details
BioGPS NCI60218590_atDLD122.66929.550Details
BioGPS NCI60218590_atDU14529.24929.550Details
BioGPS NCI60218590_atEKVX12.76029.550Details
BioGPS NCI60218590_atGM13314.07829.550Details
BioGPS NCI60218590_atGM16004.91329.550Details
BioGPS NCI60218590_atGM23137.71129.550Details
BioGPS NCI60218590_atGM23455.08829.550Details
BioGPS NCI60218590_atGM24933.42029.550Details
BioGPS NCI60218590_atGM977.17729.550Details
BioGPS NCI60218590_atHCC2998125.37729.550Details
BioGPS NCI60218590_atHCT116195.34529.550Details
BioGPS NCI60218590_atHCT1526.91129.550Details
BioGPS NCI60218590_atHEK 293 T-rex89.43929.550Details
BioGPS NCI60218590_atHEK 293T16.12929.550Details
BioGPS NCI60218590_atHEK29318.14129.550Details
BioGPS NCI60218590_atHELA88.34229.550Details
BioGPS NCI60218590_atHEPG260.46729.550Details
BioGPS NCI60218590_atHL6034.09629.550Details
BioGPS NCI60218590_atHOP6211.88829.550Details
BioGPS NCI60218590_atHOP9214.88529.550Details
BioGPS NCI60218590_atHS578T8.51629.550Details
BioGPS NCI60218590_atHSG34.25029.550Details
BioGPS NCI60218590_atHT1080206.90929.550Details
BioGPS NCI60218590_atHT2914.73529.550Details
BioGPS NCI60218590_atIGROV113.31629.550Details
BioGPS NCI60218590_atIOSE8020.90829.550Details
BioGPS NCI60218590_atJURKAT7.18229.550Details
BioGPS NCI60218590_atK56212.19429.550Details
BioGPS NCI60218590_atKM1245.90229.550Details
BioGPS NCI60218590_atLN1856.86429.550Details
BioGPS NCI60218590_atLNCAP14.74029.550Details
BioGPS NCI60218590_atLOX IMVI33.45229.550Details
BioGPS NCI60218590_atM1411.66329.550Details
BioGPS NCI60218590_atMALME 3M10.62329.550Details
BioGPS NCI60218590_atMCF7113.39129.550Details
BioGPS NCI60218590_atMD MB23111.97829.550Details
BioGPS NCI60218590_atMDA MB43551.21829.550Details
BioGPS NCI60218590_atMOLT442.62329.550Details
BioGPS NCI60218590_atNCI 46019.25629.550Details
BioGPS NCI60218590_atNCI H22612.90629.550Details
BioGPS NCI60218590_atNCI H2319.49129.550Details
BioGPS NCI60218590_atNCI H322M3.43829.550Details
BioGPS NCI60218590_atNCVADR RES12.48829.550Details
BioGPS NCI60218590_atOVCAR36.03429.550Details
BioGPS NCI60218590_atOVCAR47.03429.550Details
BioGPS NCI60218590_atOVCAR53.47029.550Details
BioGPS NCI60218590_atOVCAR822.03529.550Details
BioGPS NCI60218590_atPANC115.34629.550Details
BioGPS NCI60218590_atRL763.65429.550Details
BioGPS NCI60218590_atRPMI 822625.41829.550Details
BioGPS NCI60218590_atRS1184684.30529.550Details
BioGPS NCI60218590_atRXF39313.49029.550Details
BioGPS NCI60218590_atSAOS28.32629.550Details
BioGPS NCI60218590_atSF2687.13929.550Details
BioGPS NCI60218590_atSF29511.59729.550Details
BioGPS NCI60218590_atSF53914.49929.550Details
BioGPS NCI60218590_atSHSYSY+RA169.84729.550Details
BioGPS NCI60218590_atSHSYSY-RA13.70629.550Details
BioGPS NCI60218590_atSKMEL277.44629.550Details
BioGPS NCI60218590_atSKMEL2811.73729.550Details
BioGPS NCI60218590_atSKMEL536.16529.550Details
BioGPS NCI60218590_atSKOV33.77329.550Details
BioGPS NCI60218590_atSN12C11.68729.550Details
BioGPS NCI60218590_atSNB196.84529.550Details
BioGPS NCI60218590_atSNB753.36329.550Details
BioGPS NCI60218590_atSR8.04829.550Details
BioGPS NCI60218590_atSW62013.98229.550Details
BioGPS NCI60218590_atT247.46529.550Details
BioGPS NCI60218590_atT3M411.33729.550Details
BioGPS NCI60218590_atTK1011.68129.550Details
BioGPS NCI60218590_atU1185.68029.550Details
BioGPS NCI60218590_atU1385.97729.550Details
BioGPS NCI60218590_atU20S54.55429.550Details
BioGPS NCI60218590_atU2517.16229.550Details
BioGPS NCI60218590_atU876.64129.550Details
BioGPS NCI60218590_atUACC25720.57629.550Details
BioGPS NCI60218590_atUACC6219.35929.550Details
BioGPS NCI60218590_atUO3122.49129.550Details
BioGPS NCI60218590_atZR75_122.65429.550Details
BioGPS NCI60218590_atastrocytes12.42529.550Details
BioGPS NCI60218590_athuh-713.99229.550Details