Rabbit anti-Human C10orf2 Polyclonal Antibody

Uniprot Id

Q96RR1

Target Species

Human

Target Name

TWNK

Target Full Name

Twinkle mtDNA helicase

Target Function

Mitochondrial helicase involved in mtDNA replication and repair. Might have a role in mtDNA repair. Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB. Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate. Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand. In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities.; Lack DNA unwinding and ATP hydrolysis activities. Does not bind single-stranded or double-stranded DNA.

Target Involvement

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3); Mitochondrial DNA depletion syndrome 7 (MTDPS7); Perrault syndrome 5 (PRLTS5)

Target Subcellular Location

Mitochondrion matrix, mitochondrion nucleoid.

Target Tissue Specificity

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

Ataxin 8; Ataxin8; ATXN 8; ATXN8; C10 orf2 ; C10orf 2 ; C10orf2; Chromosome 10 open reading frame 2; IOSCA; mitochondrial; MTDPS7; PEO 1; PEO; PEO1; PEO1_HUMAN; PEOA3; Progressive external ophthalmoplegia 1 protein; SANDO; SCA 8; SCA8; T7 gp4 like protein with intramitochondrial nucleoid localization; T7 gp4-like protein with intramitochondrial nucleoid localization; T7 helicase-related protein with intramitochondrial nucleoid localization; T7 like mitochondrial DNA helicase; T7-like mitochondrial DNA helicase; Twinkle protein; Twinkle protein, mitochondrial; TWINL

Target Background

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.