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.

Sakai, Yasunari

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