The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal. [electronic resource]
- Journal of molecular medicine (Berlin, Germany) Aug 2006
- 660-70 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0946-2716
10.1007/s00109-006-0053-5 doi
Adenosine Triphosphate--analogs & derivatives Alternative Splicing Amino Acid Motifs Amino Acid Sequence Cell Line DNA Repair Enzymes--genetics Exons Humans Hydrolysis Isoenzymes--genetics Mitochondria--metabolism Molecular Sequence Data Phosphoric Monoester Hydrolases--genetics Polymorphism, Single Nucleotide Protein Sorting Signals--genetics Protein Transport Recombinant Fusion Proteins--genetics