subunit M2 B is an enzyme that in humans is encoded by the RRM2B gene. The gene encoding the RRM2B protein is located on chromosome 8, at position 8q23.1...
12 KB (1,508 words) - 23:57, 12 September 2024
infections. Sometime epilepsy develops. In MDDS associated with mutations in RRM2B that primarily affect the brain and muscle, there is again hypotonia in...
23 KB (2,562 words) - 16:33, 1 October 2024
NT5C) and that express its other intracellular targets (RRM1, RRM2, and RRM2B) lead to variations in response to the drug. Research has also been ongoing...
26 KB (2,420 words) - 15:49, 26 June 2024
while there are two isoforms of the beta subunit, encoded by the RRM2 and RRM2B genes: Each Class I alpha monomer consists of three domains: one mainly...
35 KB (3,628 words) - 01:20, 3 October 2024
he had two mutated versions of the gene coding for the RRM2B protein.: 20 The gene for RRM2B is in the cell nucleus; the protein it codes is necessary...
101 KB (12,457 words) - 12:40, 22 August 2024
recessive/dominant) POLG, SLC25A4, RNASEH1, TWNK, TK2, POLG2, DGUOK, TOP3A, RRM2B AR/AD PS157640 Mitochondrial DNA depletion syndrome (MNGIE type) (Mitochondrial...
42 KB (3,484 words) - 04:02, 10 October 2024
Vitamin-K-epoxide reductase (warfarin-insensitive) EC 1.17.4.5 RRM1 RRM2 RRM2B Category:EC 1.17.5 Caffeine dehydrogenase EC 1.17.5.2 Category:EC 1.17.7...
33 KB (3,650 words) - 18:48, 10 September 2024
protein, DNA-PKcs, FANCD2, MRE11A, Nibrin, P53, RAD17, RAD51, RBBP8, RHEB, RRM2B, SMC1A TERF1, and TP53BP1. The Tefu protein of Drosophila melanogaster is...
50 KB (5,684 words) - 01:04, 3 October 2024
O14718 14102 RRM1 HGNC:10451 P23921 14103 RRM2 HGNC:10452 P31350 14104 RRM2B HGNC:17296 Q7LG56 14105 RRN3 HGNC:30346 Q9NYV6 14106 RRP1 HGNC:18785 P56182...
282 KB (17 words) - 18:42, 6 October 2024
DNA is damaged. The human counterparts of RNR2, or homologs, are RRM2 and RRM2B. Over the next decade, he continued the search for genes and proteins involved...
31 KB (2,389 words) - 20:34, 30 September 2024
MDM4, NUMB, P16, P53, P73, PCAF, PSMD10, PSME3, RPL5, RPL11, PML, RPL26, RRM2B, RYBP, TBP, and UBC. Mdm2 overexpression was shown to inhibit DNA double-strand...
34 KB (4,010 words) - 17:12, 19 August 2024
PMID 15489334. Bourdon A, Minai L, Serre V, et al. (2007). "Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe...
8 KB (1,042 words) - 01:35, 3 December 2023
depletion syndrome, encephalomyopathic form, with renal tubulopathy; 612075; RRM2B Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; C10orf2...
234 KB (18,877 words) - 15:43, 9 May 2024