p53 inducible ribonucleotide reductase small subunit 2 homolog
p53 inducible ribonucleotide reductase small subunit 2 like protein
P53 inducible ribonucleotide reductase small subunit 2 short form beta
p53-inducible ribonucleotide reductase small subunit 2-like protein
Ribonucleoside diphosphate reductase M2 subunit B
Ribonucleoside-diphosphate reductase subunit M2 B
Ribonucleotide reductase M2 B
Ribonucleotide reductase M2 B (TP53 inducible)
Ribonucleotide reductase small subunit like 2 p53 inducible
TP53 inducible ribonucleotide reductase M2 B
TP53-inducible ribonucleotide reductase M2 B
機能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.
組織特異性Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma.
パスウェイGenetic information processing; DNA replication.
関連疾患Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075]. A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075]. A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. Defects in RRM2B are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 5 (PEOA5) [MIM:613077]. 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.
配列類似性Belongs to the ribonucleoside diphosphate reductase small chain family.
細胞内局在Cytoplasm. Nucleus. Translocates from cytoplasm to nucleus in response to DNA damage.