RRM2B
Function
Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage.
Involvement in disease
Mitochondrial DNA depletion syndrome 8A
MTDPS8A
A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Mitochondrial DNA depletion syndrome 8B
MTDPS8B
A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
PEOA5
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
None
The disease is caused by variants affecting the gene represented in this entry.
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
RCDFRD
An autosomal recessive disease characterized by visual impairment due to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type renal dysfunction resulting in rickets-like skeletal changes. Death may occur in childhood or young adulthood due to renal failure. Disease onset is before age 5 years.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ribonucleoside diphosphate reductase small chain family.
Tissue Specificity
Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma.
Cellular localization
- Cytoplasm
- Nucleus
- Translocates from cytoplasm to nucleus in response to DNA damage.
Alternative names
P53R2, RRM2B, Ribonucleoside-diphosphate reductase subunit M2 B, TP53-inducible ribonucleotide reductase M2 B, p53-inducible ribonucleotide reductase small subunit 2-like protein, p53R2