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Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. [ 1 ] [ 3 ] It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of variant. [ 3 ]
UDP-glucuronosyltransferase 1-1 also known as UGT-1A is an enzyme that in humans is encoded by the UGT1A1 gene. [5] [6]UGT-1A is a uridine diphosphate glucuronosyltransferase (UDP-glucuronosyltransferase, UDPGT), an enzyme of the glucuronidation pathway that transforms small lipophilic (fat-soluble) molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable ...
A deficiency in the bilirubin specific form of glucuronosyltransferase is thought to be the cause of Gilbert's syndrome, which is characterized by unconjugated hyperbilirubinemia. It is also associated with Crigler–Najjar syndrome , a more serious disorder where the enzyme's activity is either completely absent (Crigler–Najjar syndrome type ...
There are additional rare causes of hereditary hyperbilirubinemia like Lucey-Driscoll syndrome and Heme Oxygenase-1 Deficiency. [1] Both Gilbert syndrome and Crigler-Najjar syndrome cause an elevated unconjugated bilirubin level due to mutations in the UGT1A1 gene, which conjugates bilirubin within liver cells so it can be excreted.
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The current Bachelor is opening up about what causes his eyes to appear yellow after fans started worrying about his health on social media. Joey Graziadei, currently the star of the long-running ...
Gilbert's syndrome is correlated with UTG1A1 TATA box polymorphism. [43] This poses a risk for developing jaundice in newborns. MicroRNAs also play a role in replicating viruses such as HIV-1. [44] Novel HIV-1-encoded microRNA have been found to enhance the production of the virus as well as activating HIV-1 latency by targeting the TATA box ...
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