p53R2 Polyclonal Antibody, 50ul Cell Separation and Collection Expansion of a GGCCTG repeat

Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36

and heart anomalies

2001 [PubMed 11165019])

and plays a role in regulating the migration of tumor cells

This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described

p53R2 Polyclonal Antibody, 50ul Cell Separation and Collection Expansion of a GGCCTG repeatRRM2B encodes the small subunit of a p53 inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in RRM2B have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia 5, and mitochondrial