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CYP2C8

Synonyms
CPC8, CYP2C8DM, CYPIIC8, MP-12/MP-20
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 and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few 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
8
Likely pathogenic
0
VUS
452
Likely benign
1,829
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on CYP2C8 gene are displayed below. The following symptoms were found in patients with a variant in CYP2C8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood forming tissues
37.5%
Abnormality of head or neck
37.5%
Abnormality of the immune system
37.5%
Abnormality of the nervous system
37.5%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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