UGT1A - UDP glucuronosyltransferase family 1 member A complex locus Gene
Also Known as UGT; GNT1; UGT1; UGT1A@
Species: Homo sapiens
Summary
This RefSeq represents a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Gilbert Syndrome |
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| Bilirubin, Serum Level Of, Quantitative Trait Locus 1 |
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| Hyperbilirubinemia, Transient Familial Neonatal |
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| Crigler-Najjar Syndrome, Type I |
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| Crigler-Najjar Syndrome, Type Ii |
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| Bilirubin Metabolic Disorder |
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