TABLE 1 

Pathologies associated with P450 splice variants

P450 IsoformVariant FormRelated DiseaseReference
CYP1A1∆Exon 2 and 6Ovarian cancerChinta et al. (2005)
Bauer et al. (2007)
Leung et al. (2005)
CYP1B1Partial ∆Exon 2GlaucomaStoilov et al. (1998)
Li et al. (2014)
CYP2A6DeletionsLung cancerLiu et al. (2013b)
CYP2B6∆Exons 4–6Liver/colon cancerMiles et al. (1989)
CYP8A1∆Exons 2 and 9Essential hypertensionNakayama et al. (2002b)
Nakayama et al. (2002a)
CYP11B2Trans-splicing to CYP11B1Congenital adrenal hyperplasiaHampf et al. (2001)
CYP17A1∆Exons 2, 4, 6, or 817-α Hydroxylase deficiency, 
congenital adrenal hyperplasiaYamaguchi et al. (1998)
Costa-Santos et al. (2004)
Hwang et al. (2011)
CYP19A1∆Exon 5Aromatase deficiencyPepe et al. (2007)
CYP24A1∆Exons 9–11Breast, colon, and prostate cancerMuindi et al. (2007)
CYP26B1∆Exon 2AtherosclerosisElmabsout et al. (2012)
Oral cancerChen et al. (2014)
CYP27A1∆Exons 4,6, 7Cerebrotendinous xanthomatosisGaruti et al. (1996)
Verrips et al. (1997)
Chen et al. (1998)
CYP27B1∆Exons 4–7Glioblastoma, leukemia, melanoma, cervical cancer, ovarian cancerMaas et al. (2001)
Flanagan et al. (2003)
Fischer et al. (2007)
Wu et al. (2007)
Fischer et al. (2009b)
CYP46A1Intron 2Alzheimer diseaseLi et al. (2013a)
Li et al. (2013b)