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CYP39A1

Synonyms
-
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 protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants.

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
22
Likely pathogenic
0
VUS
3,648
Likely benign
121
Benign
0

Patient Phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on CYP39A1 gene are displayed below. The following symptoms were found in patients with a variant in CYP39A1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
59.1%
Abnormality of the nervous system
54.5%
Abnormality of head or neck
40.9%
Abnormality of limbs
40.9%
Abnormality of the cardiovascular system
27.3%
Abnormality of the eye
27.3%
Abnormality of the ear
22.7%
Growth abnormality
22.7%
Abnormality of blood and blood forming tissues
18.2%
Abnormality of the integument
18.2%
Abnormality of the genitourinary system
13.6%
Abnormality of metabolism homeostasis
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of prenatal development or birth
4.5%
Abnormality of the digestive system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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