• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_001163812 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 2, mRNA. ORF Sequence $507.21
Peptide Services
Antibody Services
Protein Services
NM_001163813 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 3, mRNA. ORF Sequence $200.97
Peptide Services
Antibody Services
Protein Services
NM_001163814 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. ORF Sequence $159.00
Peptide Services
Antibody Services
Protein Services
NM_021830 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. ORF Sequence $595.95
Peptide Services
Antibody Services
Protein Services


Gene Symbol C10orf2
Entrez Gene ID 56652
Full Name chromosome 10 open reading frame 2
Synonyms ATXN8, FLJ21832, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL
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 Full Length $1289.40
ORF Sequence $507.21
NM_001163813, 255304947 NP_001157285, 255304948 twinkle protein, mitochondrial isoform C Full Length $522.00
ORF Sequence $200.97
NM_001163814, 255304959 NP_001157286, 255304960 twinkle protein, mitochondrial isoform D Full Length $534.76
ORF Sequence $159.00
NM_021830, 255304944 NP_068602, 39725942 twinkle protein, mitochondrial isoform A Full Length $1274.00
ORF Sequence $595.95
Homo sapiens (human)C10orf2NP_068602.2
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)C6H10orf2NP_001026515.1
Drosophila melanogaster (fruit fly)CG5924NP_609318.1
Caenorhabditis elegansF46G11.1NP_508973.2
GeneCards C10orf2
UniProt E5KSY5, Q96RR1, Q9H6V3
MIM 606075
Ensembl ENSG00000107815
HGNC 1160
HPRD 05830

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

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

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Secured Online Quotation
Email: gene@genscript.com
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188
Fax: 1-732-210-0262 1-732-885-5878