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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. 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. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码一个UDP葡萄糖醛酸,即转化小的亲脂性分子,如类固醇,胆红素,激素和药物,成水溶性,可排泄的代谢物的葡萄糖醛酸化途径的酶。该基因是一个复杂的轨迹编码几个UDP-glucuronosyltransferases的一部分。轨迹包括13独特的交替的第一外显子后面四种常见的外显子。替代第一外显子的四个被认为是假。每个其余九5‘外显子的可拼接到四种常见的外显子,造成九的蛋白质具有不同的N端和相同的C-末端。每个第一外显子编码底物结合位点,并通过它自己的启动子调节。由该基因编码的酶具有许多基材,包括香豆素,酚,蒽醌,黄酮,和一些类阿片葡萄糖醛酸酶的活性。 [由RefSeq的,2008年7月提供]
UGT1A8基因(以及对应的蛋白质)的细胞分布位置:
UGT1A8基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Malignant neoplasm of urinary bladder | 0.122367032 | 3 | 1 | GAD_GWASCAT |
Diarrhea | 0.00764398 | 3 | 0 | BeFree_GAD |
Malignant neoplasm of liver | 0.004734064 | 2 | 0 | GAD |
Colorectal Cancer | 0.004734064 | 2 | 0 | GAD |
Deafness | 0.002367032 | 1 | 0 | GAD |
Drug Allergy | 0.002367032 | 1 | 0 | GAD |
Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
Hematological Disease | 0.002367032 | 1 | 0 | GAD |
Leukopenia | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
hearing impairment | 0.002367032 | 1 | 0 | GAD |
Infection | 0.002367032 | 1 | 0 | GAD |
Hearing Loss | 0.002367032 | 1 | 0 | GAD |
Crigler Najjar syndrome, type 1 | 0.001628651 | 6 | 0 | BeFree |
Hyperbilirubinemia | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis D Infection | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Influenza | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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