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CYP4F3

Synonyms
CPF3, CYP4F, CYPIVF3, LTB4H
External resources
Summary
This gene, CYP4F3, 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, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene.

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
26
Likely pathogenic
6
VUS
4,238
Likely benign
477
Benign
0

Patient Phenotypes

Proportions of phenotypes among 32 patients carrying pathogenic or likely pathogenic variants on CYP4F3 gene are displayed below. The following symptoms were found in patients with a variant in CYP4F3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.1%
Abnormality of the musculoskeletal system
40.6%
Abnormality of head or neck
31.3%
Abnormality of the eye
28.1%
Growth abnormality
25%
Abnormality of the integument
18.8%
Abnormality of the cardiovascular system
15.6%
Abnormality of blood and blood forming tissues
9.4%
Abnormality of limbs
9.4%
Abnormality of the ear
9.4%
Abnormality of the genitourinary system
9.4%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
6.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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