C10orf2
chromosome 10 open reading frame 2
Synonyms:
ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL
Species:
UniProtKB ID:
Gene ID:
- Human(56652) 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]
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Antibodies
Product Number
Description
Species Reactivity
Application
Monoclonal Anti-PEO1, (C-terminal) antibody produced in mouse, clone 1C5, purified immunoglobulin, buffered aqueous solution,
Species Reactivity
human
Application
ELISA
western blot
western blot
ANTI-TWNK antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry