Twinkle Protein, Mitochondrial (C10orf2) Antibody

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.

Target	Twinkle Protein, Mitochondrial (C10orf2)
Clonality	Polyclonal
Reactivity	Human
Tested Applications	ELISA, WB, IHC
Host	Rabbit
Recommended dilutions	WB: 1/1000, IHC-P: 1/10 - 1/50. Not tested in IHC-F. Optimal dilutions/concentrations should be determined by the end user.
Conjugation	Unconjugated
Immunogen	KLH-conjugated synthetic peptide between 656-684 amino acids from the C-terminal region of human C10orf2.
Isotype	IgG
Form	Liquid
Purification	Purified through a protein A column, followed by peptide affinity purification.
Storage	Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.
UniProt Primary AC	Q96RR1 (UniProt, ExPASy)
UniProt Secondary AC	B2CQL2, Q6MZX2, Q6PJP5, Q96RR0
UniProt Entry Name	PEO1_HUMAN
Gene Symbol	TWNK
KEGG	hsa:56652
String	9606.ENSP00000309595
Molecular Weight	Calculated MW: 77.2 kDa
Buffer	PBS containing 0.09% sodium azide.
Availability	Shipped within 5-10 working days.
Note	This product is for research use only.

Research Articles on Twinkle Protein, Mitochondrial (C10orf2)

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