GTX53922
Twinkle antibody
Cannot supply to this region.
- SKU:
- GTX53922
- Additional Names:
- twinkle mtDNA helicase , ATXN8 , C10orf2 , IOSCA , MTDPS7 , PEO , PEO1 , PEOA3 , PRLTS5 , SANDO , SCA8 , TWINL
- Application:
- WB, IF, ICC
- Physical State:
- Liquid
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Host:
- Rabbit
- Reactivities:
- Human
- Buffer:
- PBS, 50% Glycerol, 0.02% Sodium azide.
- Immunogen:
- Recombinant fusion protein containing a sequence corresponding to amino acids 385-684 of human C10orf2 (NP_068602.2).
- Uniprot:
- Q96RR1
- Synonyms:
- ataxin 8;ATXN8;C10orf2;IOSCA;MTDPS7;PEO;PEO1;PEOA3;PRLTS5;progressive external ophthalmoplegia 1 protein;SANDO;SCA8;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;TWINL
- Extra Details:
- 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]
- Shipping Conditions:
- Blue Ice