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Rabbit Anti-DPYD/FITC Conjugated antibody
background:
Dihydropyrimidine dehydrogenase (DPYD) catalyzes the first rate-limiting step of the NADPH-dependent catabolism of uracil and thymine to dihydrouracil and dihydrothymine; thus, a deficiency of DPYD leads to an accumulation of uracil and thymine. Abnormal concentrations of these metabolites in bodily fluids may be the cause of neurological disease and a contraindication for treatment of cancer patients with certain pyrimidine analogs. DPYD also catalyzes the anticancer agent 5-fluorouracil (5-FU) pathway and is involved in the efficacy and toxicity of 5-FU. Variations in DPYD concentration may arise from alterations at the transcriptional level of the dihydropyrimidine dehydrogenase gene. Specifically, hypermethylation of the DPYD promoter downregulates dihydropyrimidine dehydrogenase expression. Deficient DPYD alleles may constitute a risk factor for severe toxicity following treatment with 5-FU.
Involvement in disease:
Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) ; also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.
Function:
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.
Subunit:
Homodimer.
Subcellular Location:
Cytoplasm
Tissue Specificity:
Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
DISEASE:
Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]; also known as hereditary thymine-uraciluria or familial pyrimidinemia. A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil.
Similarity:
Belongs to the dihydropyrimidine dehydrogenase family.
Contains 3 4Fe-4S ferredoxin-type domains.
Database links:
Entrez Gene: 281124 Cow
Entrez Gene: 366 Human
Entrez Gene: 99586 Mouse
Entrez Gene: 397109 Pig
Entrez Gene: 81656 Rat
GenBank: AAH08379 Human
Omim: 274270 Human
Omim: 612779 Human
SwissProt: Q28007 Cow
SwissProt: Q12882 Human
SwissProt: Q8CHR6 Mouse
SwissProt: Q28943 Pig
SwissProt: O89000 Rat
Unigene: 335034 Human
Unigene: 27907 Mouse
Unigene: 158382 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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