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Validated All-in-One™ qPCR Primer for UGT1A1(NM_000463.2) Search again
Product ID:
HQP013615
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A
Gene Description:
UDP glucuronosyltransferase family 1 member A1
Target Gene Accession:
NM_000463.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases.
Gene References into function
- A novel G > A mutation at the splice acceptor site in intron 4, causing Crigler-Najjar syndrome type 1
- The high frequencies of (TA)(7) polymorphism among the three groups confirm previous data that this polymorphism is very ancient and appears to be distributed throughout the world.
- Polymorphisms in UGT1A1 causes cholelithiasis and a modifier of bilirubin metabolism
- polymorphism in the UGT1A1 gene promoter and its association with hyperbilirubinemia
- results indicate that carriage of the homozygous 211 G to A variation within the coding region is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates.
- induction in cultured tumor cells by sulforaphane and its glutathione conjugate
- Most patients with Gilbert's syndrome may have abnormalities in glucuronidation of aspirin or coumarin- and dopamine-derivatives, due to this combination of UGT1A1*28 and UGT1A6*2 genotypes.
- Crigler Najar syndrome and Gilbert syndrome caused by deficiency in hepatic glucuronidation of bilirubin resulting from mutation of UGTqA1 gene. (review)
- UGT1A1 induction by ligand binding to the Ah receptor was regionalized to a UGT1A1 enhancer region containing a xenobiotic response element (XRE) at -3381/-3299
- human bilirubin UDP-glucuronosyltransferase requires phosphorylation for activity
- The UGT1A promoter polymorphism is a powerful nonglobin genetic modifier in Sickle Cell Anemia that influences serum bilirubin both at baseline and on hydroxyurea therapy.
- Frequent haplotypes containing several UGT1 allelic variants should be taken into account in studies on the association between diseases, abnormal drug reactions, and UGT1 family polymorphisms.
- genetic variation in genes involoved in the disposition of anticancer agents might alter patient't outcome.
- investigated the contribution of the A(TA)(7)TAA/A(TA)(7)TAA genotype in the promoter region of the UGT1 A1 gene in the variable unconjugated serum bilirubin levels in patients with thalassemia and sickle cell anemia.
- 4% of males in the Kuwaiti population have G6PD deficiency coexisting with low activity of the UDPGT1 promoter
- a translocation-deficient UGT1A1 protein is involved in Crigler-Najjar syndrome
- We analyzed the bilirubin UDP-glucuronosyltransferase gene in a female Chinese patient with Crigler-Najjar syndrome type I.
- The TA repeat polymorphism in UGT1A1, which predisposes some individuals to Gilbert's syndrome, predicts the susceptibility to tranilast-induced hyperbilirubinemia.
- *28 allele in the UGT1A1 gene may be associated with an increased risk for breast cancer among Chinese women under age 40.
- UGT1A1 could have a role in the development of specific histologic sub-groups of ovarian cancer
- the UGT1A1 polymorphisms in colorectal cancer may play a role in patient toxicity after irinotecan
- neonates who carry the 211 and 388 variants in the UGT1A1 and OATP 2 genes, respectively, as well as feed with breast milk are at high risk to develop severe hyperbilirubinemia.
- in liver microsomes, UGT1A1 is primarily responsible for farnesol glucuronidation; however, in intestine microsomes, UGT2B7 is probably the major isoform involved
- TA)(7)/(TA)(7) genotype may be a risk factor for symptomatic gallstones in older people with sickle cell disease.
- detected in the endometrium are involved in the glucuronidation of E(2) and its 2-OH, 4-OH, and 2-MeO metabolites
- results demonstrate a rational mechanistic basis for UGT1A1 induction by glucocorticoids and PXR activators, showing that activated glucocorticoid receptor enhances CAR/PXR-mediated UGT1A1 regulation with the transcriptional cofactor GRIP1
- dexamethasone directly and/or indirectly stimulates UGT1A1 expression through the HNF1 region in the promoter region of UGT1A1
- Nonviral gene transfer of UGT1A1 into Gunn rat liver and muscle corrected hyperbilirubinemia.
- It is the enzyme responsible for glucuronidation of SN-38 to form less toxic, inactive metabolite SN38G.
- the UGT1A1 gene promoter polymorphism may have a role in cholelithiasis in sickle cell anemia patients
- Novel mutations, considered pathogenic, including 1 nonsense mutation, 2 altered splice sites, 1 single-base deletion & 9 missense mutations were found in coding exons & flanking introns. Several new missense mutations are in critical domains.
- the -3263T>G MUTATION IS NOT LIKELY TO BE ASSOCIATED WITH THE NEONATAL HYPERBILIRUBINEMIA IN JAPANESE.
- UGT1A1 promoter repeat polymorphism is associated with Childhood acute lymphoblastic leukemia
- polymorphism in the phenobarbital-responsive enhancer module of the UGT1A1 gene has a role in response to irinotecan and its toxicity
- UGT1A1, OATP2 and G6PD genes have roles in genetic predisposition to unconjugated hyperbilirubinemia
- Individuals with decreased UGT1A1 activity due to the 7/7 genotype may be at greater risk for carcinogenesis, they also may have greater opportunity to decrease that risk through dietary intervention such as the addition of vegetables.
- carriage of the UGT1A7*3 allele, as well as variant-211 UGT1A1 allele represents a risk factor for the development of, and a determinant for, metastases associated with colorectal cancer patients
- Serum bilirubin was significantly higher in the homozygous (AT)7 UGT1A1 allele group
- There is a differential induction of UGT1A1 by chrysin in primary hepatocytes and HepG2 cells.
- Free thiol groups of 7 cysteine residues within the intracisternal region of human UGT1A1 are important for its catalytic activity, while cysteine residues in the cytosolic domain may be involved in its physiological activation by UDP-GlcNAc.
- homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese
- Regulation of the UGT1A1 gene by Nuclear receptors is studied.
- analysis of the genetic determinants of UGT1A1 inducibility by phenobarbital in cultured human hepatocytes
- Gilbert UGT1A1 allele increases the risk of gallstone formation in cystic fibrosis(CF). Genetic and exogenous sources contributing to hyperbilirubinbilia might be lithogenic in CF patients.
- For Thai HIV-infected patients treated with indinavir, the promoter polymorphism (UGT1A1*28) is of less significance than the coding region (UGT1A1*6) mutation as a risk factor for hyperbilirubinemia.
- combinations of mutations in the UGT1A1 gene play a role in development of Crigler-Najjar type II syndrome
- Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
- In human hepatic cells and human UGT1A transgenic mice, LXRalpha activators induce UGT1A3 mRNA levels and the formation of CDCA-24glucuronide (24G) and LCA-24G.
- We could not confirm the relationships between ABCB1 and UGT1A1 polymorphisms and Ir PK.
- analysis of the linkage disequilibrium of UGT1A1 *6 and UGT1A1 *28 in relation to UGT1A6 and UGT1A7 polymorphisms
- Genetic heterogeneity in UGT1A1 in Chinese populations may be linked to development of irinotecan toxicity and hyperbilirubinemias.
- Results indicate that alternative splicing mechanism at the UGT1A locus amplifies the structural diversity of human UGT proteins and describes the identification of an additional posttranscriptional regulatory mechanism of the glucuronidation pathway.
- the frequency of UGT1A1(TA)n promoter polymorphism genotypes, including the extremely rare (TA)8 allele, was determined for the first time in the Slovenian population and is similar to frequencies observed in other Caucasian populations
- analysis of new pathogenic variations of the UGT1A1 gene in patients with neonatal unconjugated hyperbilirubinemia
- Nrf2-Keap1-dependent UGT1A1 induction by prooxidants might represent a key adaptive response to cellular oxidative stress
- genetic polymorphisms of UGT1A as a prognostic factor in advanced colorectal cancer patients treated with 5-fluorouracil plus oxaliplatin or irinotecan.
- Serum bilirubin glucuronidation is modulated by dietary intervention, but factors such as UGT1A1 genotype and sex may affect the response to diet.
- in the steady state, similar rates of hemolysis, but increased plasma total bilirubin (PTB)in the glucose-6-phosphate dehydrogenase deficient, (TA)7/(TA)7 homozygotes, imply that (TA)7/(TA)7, homozygosity is central to increased PTB
- Provide evidence for HNF1alpha as a determinant of UGT1A1 mRNA expression, but suggest a role for multiple transcription factors.
- The correlation of UGT1A1 with total bilirubin levels was mainly due to (TA)(n) repeats in Caucasians but a clear correlation was not observed in African Americans because of the high diversity of haplotypes and the small sample size.
- UGT1A1 promoter polymorphisms have a role in response by colon cancer to treatment with irinotecan
- PBREM has no relation with the induction by dexamethasone-glucocorticoid receptor (GR) but the proximal site of UGT1A1 may function in stimulation by dexamethasone-GR
- these data indicate only a partial (approximately 40%) contribution of the UGT1A1*28 polymorphism to variability of interindividual differences in UGT1A1 enzyme activity.
- Associations between UGT1A haplotypes and pharmacokinetics/pharmacodynamics of irinotecan were investigated to identify pharmacogenetic markers.
- 5-(4'-Hydroxyphenyl)-5-phenylhydantoin O-glucuronide formation in human liver microsomes is catalyzed by UGT1A1, UGT1A9, and UGT2B15 in a stereoselective manner
- The key residues within the nucleotide-sugar binding site of UDPGT were identified.
- a UGT1A1 promoter polymorphism increases risk of nilotinib-induced hyperbilirubinemia
- The aims of this study were to determine the L-thyroxine (T4) glucuronidation ability of human UGTs, and investigate the relationship between genetic polymorphisms in UGT1A1 and UGT1A9 and T4 glucuronidation in human livers.
- Increased frequency of uridine diphosphate glucuronosyltransferase 1A1 7/7 in patients experiencing severe irinotecan-induced toxicities
- UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults
- Finds the UGT1A1 gene codon G71R allele is a risk factor for neonatal hyperbilirubinemia in the Chinese population
- Determine drug metabolism by human liver microsomes genotype for UGT1A1 polymorphisms.
- the role of the above genetic variation at the UGT1A1 locus in breast cancer susceptibility was investigated in a homogeneous population.
- Although the concentration of bilirubin in the UGT1A1 variant is higher than the wild type for the patients with coronary disease (CAD), there is no significant difference in the polymorphism between the patients and the participants in the control group
- UGT1A1 prefers metabolizing R-carvedilol to S-carvedilol. A G71R mutation of UGT1A1 reduced both affinity and capacity but did not affect stereoselective metabolism.
- UGT1A1 over-expression could protect against xenobiotic assault.
- role in neonatal hyperbilirubinemia and kernicterus [review]
- The glucuronidation of all UGT1A1 substrates is likely to be impaired in subjects carrying the UGT1A1*6 and UGT1A1*62 alleles, although the reduction in metabolic clearance might vary with the substrate.
- High frequency of UGT1A1 promoter polymorphism, coupled with G-6-PD deficiency, may contribute to the pathogenesis of extreme neonatal hyperbilirubinemia in Nigeria.
- UGT1A7, UGT1A8, and UGT1A9 were mainly responsible for formation of prunetin-5- O-glucuronide; UGT1A1, UGT1A8, and UGT1A10 were mainly responsible for formation of prunetin-4'- O-glucuronide; thermostability of microsomes was isoform- and organ-dependent
- combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in beta-thal/hemoglobin E
- UGT1A1*6 polymorphism is associated with irinotecan toxicities in cancer
- HNF1alpha bound to the proximal promoter motif enhances basal reporter activity of UGT1A1, including distal (-3570/-3180) and proximal (-165/-1) regions, and influences transcriptional regulation of UGT1A1 by CAR, PXR, GR, and AhR
- Docosahexaenoic acid and vitamin E resulted to affect only slightly UDP-glucuronosyltransferase 1A1 (UGT1A1) mRNA expression. Nevertheless, their combination produced a considerable reduction of this mRNA.
- less cardiovascular risk in individuals with Gilbert syndrome (GS) as well as those with the UGT1A1*28 allele
- The G/G genotype (rs2070959) in the UGT1A1 gene may decrease the risk of endometrial cancer in women with low levels of endogenous estrogen or with low soy intake.
- This study of patients with intermittent claudication and control individuals revealed a clear association between low bilirubin concentrations and peripheral arterial disease but no association between the UGT1A1 polymorphism and the disease.
- Polymorphisms within the gene are markers for personalized irinotecan therapy in Japanese cancer patients.
- the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu sickle cell disease patients' clinical manifestations, even at a young age
- A missense mutation of Tyr486Asp in the UGT1A1 gene is considered to be the cause of the Crigler-Najjar syndrome type II in this patient. It is a recessive trait that is autosomally inherited in this family.
- UGT1A1 and UGT1A9 activity in human liver are affected by soyabean isoflavones genistein and daidzein
- UGT polymorphisms may be a factor influencing clinical outcomes among patients receiving mycophenolate mofetil for transplant therapy.
- Role in Gilbert's syndrome (Review)
- significantly higher proportion of MPA AUC measurements in recipients carrying the UGTIA9 T-275A and/or C-2152T SNP were in the low MPA exposure range.
- Gene polymorphisms of UGT1A1 gene were detected in children with hereditary hyperbilirubinemia; degree of genetic heterogeneity and variant coexpression across UGT1A1 genes points to polygenic nature of neonatal hyperbilirubinemia.
- UGT1A1-3279 GG/TG intermediate/low activity genotypes were associated with an increased risk of colon cancer (odds ratio (OR)=1.5, 95% confidence interval (CI)=1.1-2.0) in Caucasians.
- UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia are reported.
- The c.-3279T>G variant in the UDP-glucuronosyltransferase (UGT)1A1 gene is a further factor for development of hyperbilirubinemia in the Taiwanese population.
- Prospective evaluations of genetic testing for UGT1A1 polymorphisms appear to be warranted, especially in East Asian countries
- This study reports that citrus consumption may increase UGT1A1 activity among women with the 7/7 genotype.