Home > Gene Browser > CYP3A5

CYP3A5

Synonyms
CP35, CYPIIIA5, P450PCN3, PCN3
External resources
Summary
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. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
20
Likely pathogenic
0
VUS
1,170
Likely benign
2,447
Benign
0

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on CYP3A5 gene are displayed below. The following symptoms were found in patients with a variant in CYP3A5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
60%
Abnormality of head or neck
55%
Abnormality of the nervous system
55%
Abnormality of the cardiovascular system
40%
Abnormality of the eye
40%
Abnormality of limbs
30%
Abnormality of the integument
25%
Growth abnormality
25%
Abnormality of the ear
20%
Abnormality of prenatal development or birth
10%
Abnormality of the genitourinary system
10%
Abnormality of blood and blood forming tissues
5%
Abnormality of metabolism homeostasis
5%
Abnormality of the digestive system
5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.