POR Chromosome 7
Cytochrome p450 oxidoreductase
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What This Gene Does
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. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes|Flavoproteins"
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000127948
Associated Conditions (22)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
POR-related disorder
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Inborn genetic diseases
Premature ovarian failure
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Malignant lymphoma
large B-cell
diffuse
Nonpapillary renal cell carcinoma
Colorectal cancer
Colon adenocarcinoma
Clear cell carcinoma of kidney
Sarcoma
Adrenocortical carcinoma
hereditary
Congenital adrenal hyperplasia
Differences in sex development
+2 more conditions
Key Variants
RS11540674
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS145782750
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, POR-related disorder
Health Risk
RS150414675
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS1554558784
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS1554559285
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS17853284
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Health Risk
RS180683888
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS181837747
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS200112691
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS200622912
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS201513102
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
RS201598971
Conflicting classifications of pathogenicity
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Health Risk
All Variants (136)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2535400917 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535401475 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535404377 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535408971 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535409791 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535411057 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535412257 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535412438 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535413569 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535414492 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2545335404 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |
| RS28931606 | Health Risk | Pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS373613946 | Health Risk | Pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72552771 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72552772 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS781914230 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782343026 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS782395275 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782425291 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782579716 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782677940 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782696006 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782697310 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782700768 | Health Risk | Pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS786205099 | Health Risk | Pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS786205875 | Health Risk | Pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS786205878 | Health Risk | Pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS1789094697 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS2535263403 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS373053855 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS74900634 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS781805159 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia |
| RS781946801 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS782024141 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS782261248 | Health Risk | Pathogenic/Likely pathogenic | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS782336856 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia |