Pathologies associated with P450 splice variants
| P450 Isoform | Variant Form | Related Disease | Reference |
|---|---|---|---|
| CYP1A1 | ∆Exon 2 and 6 | Ovarian cancer | Chinta et al. (2005) |
| Bauer et al. (2007) | |||
| Leung et al. (2005) | |||
| CYP1B1 | Partial ∆Exon 2 | Glaucoma | Stoilov et al. (1998) |
| Li et al. (2014) | |||
| CYP2A6 | Deletions | Lung cancer | Liu et al. (2013b) |
| CYP2B6 | ∆Exons 4–6 | Liver/colon cancer | Miles et al. (1989) |
| CYP8A1 | ∆Exons 2 and 9 | Essential hypertension | Nakayama et al. (2002b) |
| Nakayama et al. (2002a) | |||
| CYP11B2 | Trans-splicing to CYP11B1 | Congenital adrenal hyperplasia | Hampf et al. (2001) |
| CYP17A1 | ∆Exons 2, 4, 6, or 8 | 17-α Hydroxylase deficiency, congenital adrenal hyperplasia | Yamaguchi et al. (1998) |
| Costa-Santos et al. (2004) | |||
| Hwang et al. (2011) | |||
| CYP19A1 | ∆Exon 5 | Aromatase deficiency | Pepe et al. (2007) |
| CYP24A1 | ∆Exons 9–11 | Breast, colon, and prostate cancer | Muindi et al. (2007) |
| CYP26B1 | ∆Exon 2 | Atherosclerosis | Elmabsout et al. (2012) |
| Oral cancer | Chen et al. (2014) | ||
| CYP27A1 | ∆Exons 4,6, 7 | Cerebrotendinous xanthomatosis | Garuti et al. (1996) |
| Verrips et al. (1997) | |||
| Chen et al. (1998) | |||
| CYP27B1 | ∆Exons 4–7 | Glioblastoma, leukemia, melanoma, cervical cancer, ovarian cancer | Maas et al. (2001) |
| Flanagan et al. (2003) | |||
| Fischer et al. (2007) | |||
| Wu et al. (2007) | |||
| Fischer et al. (2009b) | |||
| CYP46A1 | Intron 2 | Alzheimer disease | Li et al. (2013a) |
| Li et al. (2013b) |