POR

Gene Information
 
Gene Symbol
POR
 
Aliases
CPR, CYPOR, P450R
 
Entrez Gene ID
 
Gene Name
Cytochrome p450 oxidoreductase
 
Chromosomal Location
7q11.23
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0009725 Biological process Response to hormone IBA 21873635
GO:0032770 Biological process Positive regulation of monooxygenase activity IDA 19448135
GO:0055114 Biological process Oxidation-reduction process IDA 19448135
GO:0055114 Biological process Oxidation-reduction process TAS 10048323
GO:0090346 Biological process Cellular organofluorine metabolic process IDA 19448135
Protein Information
 
Protein Name
NADPH--cytochrome P450 reductase, NADPH--hemoprotein reductase, NADPH-dependent cytochrome P450 reductase, P450 (cytochrome) oxidoreductase
 
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
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00667 FAD_binding_1
PF00258 Flavodoxin_1
PF00175 NAD_binding_1
Pathways
 
Reactome
 

 

Cytochrome P450 - arranged by substrate type

Interactions
 
STRING MINT IntAct
ENSP00000245907 P01024 P01024
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Craniosynostosis
Arthrogryposis
Endocrine System Diseases
Disorders of Sex Development
Congenital adrenal hyperplasia
PCOS
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Antley-Bixler skeletal malformation 
 
 
Related 
 
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. 
 
Antley-Bixler skeletal malformation 
 
 
Related 
 
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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