Home > Gene Browser > CYP4F8

CYP4F8

Synonyms
CPF8, CYPIVF8
External resources
Summary
This gene, CYP4F8, 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 and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 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
40
Likely pathogenic
31
VUS
1,564
Likely benign
209
Benign
0

Patient Phenotypes

Proportions of phenotypes among 71 patients carrying pathogenic or likely pathogenic variants on CYP4F8 gene are displayed below. The following symptoms were found in patients with a variant in CYP4F8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.6%
Abnormality of the musculoskeletal system
33.8%
Abnormality of head or neck
28.2%
Abnormality of the eye
22.5%
Growth abnormality
21.1%
Abnormality of limbs
19.7%
Abnormality of the integument
15.5%
Abnormality of the digestive system
9.9%
Abnormality of the ear
9.9%
Abnormality of the genitourinary system
9.9%
Abnormality of metabolism homeostasis
8.5%
Abnormality of the cardiovascular system
8.5%
Abnormality of blood and blood forming tissues
7%
Abnormality of the immune system
7%
Abnormality of the endocrine system
5.6%
Abnormality of the respiratory system
4.2%
Abnormality of prenatal development or birth
2.8%
Abnormal cellular phenotype
1.4%
Constitutional symptom
1.4%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
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.