RRM1 Chromosome 11
Ribonucleotide reductase catalytic subunit M1
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What This Gene Does
This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Ribonucleotide reductase subunits
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000167325
Associated Conditions (3)
RRM1-related disorder
Progressive external ophthalmoplegia with mitochondrial dna deletions
autosomal recessive 6
Key Variants
RS2094584404
Likely pathogenic
RRM1-related disorder, Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
Health Risk
RS141634151
Pathogenic
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6, Progressive external ophthalmoplegia with mitochondrial dna deletions
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2094584404 | Health Risk | Likely pathogenic | RRM1-related disorder, Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 |
| RS141634151 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6, Progressive external ophthalmoplegia with mitochondrial dna deletions |