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Gene Symbol |
POR |
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Aliases |
CPR, CYPOR, P450R |
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Entrez Gene ID |
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Gene Name |
Cytochrome p450 oxidoreductase |
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Chromosomal Location |
7q11.23 |
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HGNC ID |
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Summary |
This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000453773, ENST00000439963, ENST00000461988, ENST00000448410, ENST00000421059, ENST00000394893, ENST00000412521, ENST00000414186, ENST00000432753, ENST00000449920, ENST00000418341, ENST00000412064, ENST00000454934, ENST00000447222, ENST00000426184, ENST00000439297, ENST00000439269 |
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Protein |
ENSP00000395813, ENSP00000390540, ENSP00000419970, ENSP00000399409, ENSP00000409881, ENSP00000378355, ENSP00000409238, ENSP00000399327, ENSP00000389409, ENSP00000399556, ENSP00000389719, ENSP00000404731, ENSP00000414263, ENSP00000393527, ENSP00000400964, ENSP00000403494, ENSP00000412490
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Protein Information |
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Protein Name |
NADPH--cytochrome P450 reductase, NADPH--hemoprotein reductase, NADPH-dependent cytochrome P450 reductase, P450 (cytochrome) oxidoreductase |
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Function |
This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5 |
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UniProt |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000245907 |
P01024 |
P01024 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Craniosynostosis |
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Arthrogryposis |
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Endocrine System Diseases |
Disorders of Sex Development |
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Congenital adrenal hyperplasia |
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PCOS |
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Musculoskeletal Diseases |
Antley-Bixler Syndrome |
14758361, 27496950, 16906539, 15220035, 18559916, 14513299, 12116245, 15483095, 9360545, 15793702, 16470797, 15264278 |
Neoplasms |
Bladder Cancer |
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Gliosarcoma |
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Psychiatric/Brain disorders |
Learning Disorders |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Antley-Bixler skeletal malformation |
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Related
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Individuals with an Antley-Bixler syndrome-like phenotype presenting with sexual ambiguity or other abnormalities(PCOS) in steroidogenesis should be analyzed for P450 oxidoreductase deficiency. |
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Antley-Bixler skeletal malformation |
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Related
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Mutations of POR are a new, recently described disorder manifesting as the Antley-Bixler skeletal dysplasia syndrome, and a form of polycystic ovary syndrome |
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