Symbol: Name: ID: |
C10orf2 chromosome 10 open reading frame 2 GFS:1450 |
Gene name: | C10orf2 |
Chromosome: | 10q24 |
Previous Symbols: | IOSCA, SCA8 |
Previous Names: | infantile onset spinocerebellar ataxia (autosomal recessive) |
Aliases: | PEO, PEO1, TWINKLE, FLJ21832, TWINL, ATXN8 |
Name Aliases: | twinkle, |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2137410 | Rat Genome Database ID: | RGD:1307884 |
HGNC ID: | HGNC:1160 | RefSeq IDs: | NM_001163812 |
Entrez Gene ID: | 56652 | Ensembl Gene ID: | ENSG00000107815 |
VEGA IDs: | OTTHUMG00000018917 | UniProt ID: | Q96RR1 |
UCSC ID: | uc001ksf.2 | OMIM ID: | 606075 |
Pubmed: | PMID11431692 PMID 10645945 PMID 16135556 | ||
CCDS IDs: | CCDSCCDS7506.1 |
Twinkle protein, mitochondrial is a protein that in humans is encoded by the C10orf2 gene. 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.
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 (By similarity).
Products for C10orf2 gene
Catalog | Product Name | Application | Company |
GFS:E01450 | chromosome 10 open reading frame 2; ELISA kit | ELISA | n/a |
GFS:A01450 | chromosome 10 open reading frame 2; Anti | ANTIBODIES | n/a |
GFS:P01450 | chromosome 10 open reading frame 2; Protien | Protien | n/a |