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CYP8B1

Synonyms
CP8B, CYP12
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 endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless.

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
27
Likely pathogenic
0
VUS
1,954
Likely benign
310
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on CYP8B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
77.8%
Abnormality of the musculoskeletal system
59.3%
Abnormality of head or neck
55.6%
Growth abnormality
48.1%
Abnormality of the respiratory system
37%
Abnormality of the eye
29.6%
Abnormality of the digestive system
25.9%
Abnormality of limbs
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of the integument
14.8%
Abnormality of the ear
11.1%
Abnormality of the immune system
11.1%
Abnormality of prenatal development or birth
7.4%
Abnormality of the cardiovascular system
7.4%
Abnormality of the endocrine system
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the breast
3.7%
Abnormality of the voice
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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