RRM1
Function
Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides.
Involvement in disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6
PEOB6
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged red fibers are seen on muscle biopsy.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ribonucleoside diphosphate reductase large chain family.
Cellular localization
- Cytoplasm
Alternative names
RR1, RRM1, Ribonucleoside-diphosphate reductase large subunit, Ribonucleoside-diphosphate reductase subunit M1, Ribonucleotide reductase large subunit