DISEASES

Disease-gene associations mined from literature

Literature associating RRM2B and autosomal dominant progressive external ophthalmoplegia 1

RRM2B [ENSP00000251810]

Ribonucleoside-diphosphate reductase subunit M2 B; 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. ; Belongs to the ribonucleoside diphosphate reductase small chain family.

Synonyms:  RRM2B,  RRM2Bp,  hRRM2B,  A0A0C4DGZ6,  E5RG52 ...

Linkouts:  STRING  Pharos  UniProt  OMIM