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Cell lines sorted after organ of phenotypic resemblance.
Cell lines sorted after biological source for establishment.
Cell lines sorted after the cell line category according to Cellosaurus.
Cell lines sorted on descending RNA expression.
Cell lines sorted alphabetically.
GENE INFORMATION
Gene name
C10orf2 (HGNC Symbol)
Synonyms
FLJ21832, IOSCA, PEO, PEO1, TWINKLE, TWINL
Description
Chromosome 10 open reading frame 2 (HGNC Symbol)
Entrez gene 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]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
