Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
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Sun F et al. (1999) Association of genetic polymorphisms of alcohol-metabolizing enzymes with excessive alcohol consumption in Japanese men.
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None (1958) Studies on pig liver microsomes. I. Enzymic and pigment composition of different microsomal fractions.
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| 10. |
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| 11. |
Umeno M et al. (1988) Human ethanol-inducible P450IIE1: complete gene sequence, promoter characterization, chromosome mapping, and cDNA-directed expression.
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| 12. |
Okino ST et al. (1987) Characterization of multiple human cytochrome P-450 1 cDNAs. The chromosomal localization of the gene and evidence for alternate RNA splicing.
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| 13. |
Song BJ et al. (1986) Complementary DNA and protein sequences of ethanol-inducible rat and human cytochrome P-450s. Transcriptional and post-transcriptional regulation of the rat enzyme.
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| 14. |
None (1993) Regional mapping of short tandem repeats on human chromosome 10: cytochrome P450 gene CYP2E, D10S196, D10S220, and D10S225.
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| 15. |
Tanaka F et al. (1997) Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men.
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