Home > Gene Browser > CYP27B1

CYP27B1

Synonyms
CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I.

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
172
Likely pathogenic
12
VUS
1,220
Likely benign
991
Benign
0

Patient phenotypes

Proportions of phenotypes among 97 patients carring pathogenic or likely pathogenic variants on CYP27B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.4%
Abnormality of the musculoskeletal system
35.1%
Abnormality of head or neck
26.8%
Abnormality of the ear
22.7%
Growth abnormality
19.6%
Abnormality of the cardiovascular system
17.5%
Abnormality of the eye
13.4%
Abnormality of the digestive system
12.4%
Abnormality of limbs
11.3%
Abnormality of the genitourinary system
7.2%
Abnormality of the immune system
7.2%
Abnormality of the integument
6.2%
Abnormality of blood and blood-forming tissues
4.1%
Abnormality of prenatal development or birth
4.1%
Abnormality of the endocrine system
4.1%
Abnormality of the respiratory system
4.1%
Neoplasm
2.1%
Abnormality of the breast
1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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