Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Cytochrome P450 3A5

The CYP3A5 gene encodes an enzyme from the cytochrome P450 superfamily which is involved in metabolism of steroids (hormones and lipids) and various drugs.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Salt-sensitive essential hypertension
CYP3A5

References:

1.

Aoyama T et al. (1989) Cytochrome P-450 hPCN3, a novel cytochrome P-450 IIIA gene product that is differentially expressed in adult human liver. cDNA and deduced amino acid sequence and distinct specificities of cDNA-expressed hPCN1 and hPCN3 for the metabolism of steroid hormones and cyclosporine.

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2.

Jounaïdi Y et al. (1994) Sequence of the 5'-flanking region of CYP3A5: comparative analysis with CYP3A4 and CYP3A7.

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3.

Yamakoshi Y et al. (1999) Human prostate CYP3A5: identification of a unique 5'-untranslated sequence and characterization of purified recombinant protein.

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4.

Paulussen A et al. (2000) Two linked mutations in transcriptional regulatory elements of the CYP3A5 gene constitute the major genetic determinant of polymorphic activity in humans.

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5.

Gellner K et al. (2001) Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene.

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6.

Kuehl P et al. (2001) Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression.

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7.

Hustert E et al. (2001) The genetic determinants of the CYP3A5 polymorphism.

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8.

Lin YS et al. (2002) Co-regulation of CYP3A4 and CYP3A5 and contribution to hepatic and intestinal midazolam metabolism.

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9.

Givens RC et al. (2003) CYP3A5 genotype predicts renal CYP3A activity and blood pressure in healthy adults.

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10.

Lee SJ et al. (2003) Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups.

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11.

Kivistö KT et al. (2004) Lipid-lowering response to statins is affected by CYP3A5 polymorphism.

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12.

Thompson EE et al. (2004) CYP3A variation and the evolution of salt-sensitivity variants.

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13.

Orphanet article

Orphanet ID 241994 external link
14.

NCBI article

NCBI 1577 external link
15.

OMIM.ORG article

Omim 605325 external link
16.

Wikipedia article

Wikipedia EN (CYP3A5) external link
Update: Aug. 14, 2020
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