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POR

Synonyms
CPR, CYPOR, P450R
External resources
Summary
This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
20
Likely pathogenic
52
VUS
39,719
Likely benign
37,185
Benign
465

Patient phenotypes

Proportions of phenotypes among 72 patients carrying pathogenic or likely pathogenic variants on POR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
20.8%
Abnormality of the ear
19.4%
Abnormality of head or neck
15.3%
Abnormality of the cardiovascular system
15.3%
Abnormality of the eye
15.3%
Abnormality of the genitourinary system
13.9%
Growth abnormality
9.7%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of the digestive system
6.9%
Abnormality of the immune system
6.9%
Abnormality of prenatal development or birth
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of limbs
4.2%
Neoplasm
4.2%
Abnormality of the integument
1.4%
Abnormality of the respiratory system
1.4%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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