RRM2B

Gene name: ribonucleotide reductase M2 B (TP53 inducible)
OMIM ID: 604712
Chromosome location: 8q22.3

Mutations

Disease/Phenotype	Mitochondrial DNA depletion syndrome 8A
Reference transcript	NM_015713.4
DNA Change	c.850C>T
A.A. Change	p.Gln284Stop
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A.Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80.

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