DPYD (NM_001160301) - dihydropyrimidine dehydrogenase
Dihydropyrimidine Dehydrogenase [Nadp(+)] Isoform 2
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Protein
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Protein summary
The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].
- Strand
- -
- Chromosome
- 1
- Protein
- 173 residues
- All mutations
- 40
- PTM sites
- 5
- CDS
- 98,186,443 - 98,386,478
- Transcription
- 98,185,313 - 98,386,615
Usage summary
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Kinase, PTM site or protein
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