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Immunogen sequence: GAREGFLLSK APEFEDSEEV RRIWNRAIPL WELPDQEEVQ LADTMFGLTK VTDDTLKRFS VRYLRPARSL VFPWFSPGGS GLRGLKLLEA KCQGDGVSYE ETTIPRPSAY HNLFGLPLIS RRDAEVVLTS RELDSLALNQ STGLPTLTLP RGTTCLPPAL LPYLEQFRRI VFWLGDDLRS WEAAKLFARK LNPKRCFLVR P
Positive Samples: MCF7; Cellular Location: Mitochondrion matrix, mitochondrion nucleoid
Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars.Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001 [PubMed 11431692]).[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
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Protein Aliases: ataxin 8; Ataxin8; ATXN 8; C10 orf2; C10orf 2; FLJ21832; mitochondrial twinkle protein; PEO 1; progressive external ophthalmoplegia 1 homolog; Progressive external ophthalmoplegia 1 protein; Progressive external ophthalmoplegia 1 protein homolog; SCA 8; T7 gp4-like protein with intramitochondrial nucleoid localization; T7 helicase-related protein with intramitochondrial nucleoid localization; T7-like mitochondrial DNA helicase; Twinkle mtDNA helicase; Twinkle protein, mitochondrial
Gene Aliases: ATXN8; C10orf2; D19Ertd626e; IOSCA; MTDPS7; PEO; PEO1; PEOA3; PRLTS5; SANDO; SCA8; TWINL; TWNK
UniProt ID: (Human) Q96RR1, (Mouse) Q8CIW5
Entrez Gene ID: (Human) 56652, (Mouse) 226153, (Rat) 309441
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