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C10orf2 chromosome 10 open reading frame 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001163812 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001163813 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_001163814 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_021830 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006717921 PREDICTED: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_006717922 PREDICTED: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $449.00 14

*Business Day

Related Services

Gene Symbol C10orf2
Entrez Gene ID 56652
Full Name chromosome 10 open reading frame 2
Synonyms ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL
General protein information
Preferred Names
twinkle protein, mitochondrial
Names
twinkle protein, mitochondrial
ataxin 8
mitochondrial twinkle protein
T7-like mitochondrial DNA helicase
progressive external ophthalmoplegia 1 protein
T7 gp4-like protein with intramitochondrial nucleoid localization
T7 helicase-related protein with intramitochondrial nucleoid localization
NP_001157284.1
NP_001157285.1
NP_001157286.1
NP_068602.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q24

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].
Disorder

MIM: 606075

Progressive external ophthalmoplegia, autosomal dominant, 3, 609286

mRNA Protein Product Sequence Price Select
NM_001163812, 255304945 NP_001157284, 255304946 twinkle protein, mitochondrial isoform B ORF Sequence $700.00
NM_001163813, 255304947 NP_001157285, 255304948 twinkle protein, mitochondrial isoform C ORF Sequence $159.00
NM_001163814, 255304959 NP_001157286, 255304960 twinkle protein, mitochondrial isoform D ORF Sequence $150.00
NM_021830, 255304944 NP_068602, 39725942 twinkle protein, mitochondrial isoform A ORF Sequence $700.00
XM_006717921, 578819641 XP_006717984, 578819642 twinkle protein, mitochondrial isoform X2 ORF Sequence $300.00
XM_006717922, 578819643 XP_006717985, 578819644 twinkle protein, mitochondrial isoform X3 ORF Sequence $300.00
Reactome
REACT_200751Organelle biogenesis and maintenance
REACT_200608Transcriptional activation of mitochondrial biogenesis
REACT_200788Mitochondrial biogenesis
Homo sapiens (human)C10orf2NP_068602.2
Pan troglodytes (chimpanzee)C10H10orf2XP_003951780.1
Macaca mulatta (Rhesus monkey)C9H10orf2XP_001109287.1
Canis lupus familiaris (dog)C28H10orf2XP_543974.1
Bos taurus (cattle)C26H10orf2NP_001091933.1
Mus musculus (house mouse)Peo1NP_722491.2
Rattus norvegicus (Norway rat)Peo1NP_001101069.1
Gallus gallus (chicken)PEO1NP_001026515.1
Danio rerio (zebrafish)peo1NP_001264527.1
Drosophila melanogaster (fruit fly)CG5924NP_609318.1
Caenorhabditis elegansF46G11.1NP_508973.3
Xenopus (Silurana) tropicalis (western clawed frog)LOC100491229XP_002938766.1
Process
IDNameEvidence
GO:0006264mitochondrial DNA replicationIMP
GO:0006264mitochondrial DNA replicationNAS
GO:0006268DNA unwinding involved in DNA replicationIEA
GO:0006390transcription from mitochondrial promoterIMP
GO:0008219cell deathIEA
GO:0034214protein hexamerizationIDA
GO:0051260protein homooligomerizationIDA
Component
IDNameEvidence
GO:0042645mitochondrial nucleoidIDA
Function
IDNameEvidence
GO:0002020protease bindingIPI
GO:0003697single-stranded DNA bindingIDA
GO:0005524ATP bindingIEA
GO:00431395'-3' DNA helicase activityIDA
GeneCards C10orf2
UniProt E5KSY5, Q96RR1, Q9H6V3
Vega OTTHUMG00000018917
MIM 606075
Ensembl ENSG00000107815
HGNC 1160
HPRD 05830

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the C10orf2 gene?

The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures in which a process called oxidative phosphorylation occurs to convert the energy from food into a form that cells can use.

Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. It functions as a mitochondrial DNA helicase, which means it binds to DNA and temporarily unwinds the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) mtDNA. The function of the Twinky protein is unknown.

Interactant

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