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CYP4F2

Synonyms
CPF2
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. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away.

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
21
Likely pathogenic
0
VUS
8,565
Likely benign
2,554
Benign
0

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on CYP4F2 gene are displayed below. The following symptoms were found in patients with a variant in CYP4F2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.4%
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
38.1%
Abnormality of head or neck
23.8%
Abnormality of the integument
23.8%
Abnormality of limbs
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of metabolism homeostasis
9.5%
Abnormality of the digestive system
9.5%
Growth abnormality
9.5%
Neoplasm
9.5%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the breast
4.8%
Abnormality of the ear
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the immune system
4.8%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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