GENETIC ENCYCLOPEDIA
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gene: RRM2

id6241
symbolRRM2
organismHomo sapiens
full nameribonucleotide reductase regulatory subunit M2
summaryThis gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]
variant-disease

GRCh37/hg19 2p25.1(chr2:10192688-10462223)x3 AND not provided

GRCh37/hg19 2p25.1(chr2:10192850-10469516)x3 AND not provided

GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 AND See cases

GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 AND See cases

GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 AND See cases

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