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- Table of Contents
Facts about Twinkle protein, mitochondrial.
Function inferred to be crucial for life maintenance of mtDNA integrity. In vitro, forms in conjunction with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules.
Human | |
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Gene Name: | TWNK |
Uniprot: | Q96RR1 |
Entrez: | 56652 |
Belongs to: |
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No superfamily |
Twinkle protein, mitochondrial
Mass (kDA):
77.154 kDA
Human | |
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Location: | 10q24.31 |
Sequence: | 10; NC_000010.11 (100987543..100994403) |
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.
Mitochondrion matrix, mitochondrion nucleoid. Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.
PMID: 11431692 by Spelbrink J.N., et al. Human mitochondrial DNA deletions associated with mutations in the gene for Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
PMID: 12975372 by Korhonen J.A., et al. TWINKLE has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.