POR

Gene Information
 
Gene Symbol
POR
 
Aliases
CPR, CYPOR, P450R
 
Entrez Gene ID
 
Gene Name
P450 (cytochrome) oxidoreductase
 
Chromosomal Location
7q11.2
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0032770 Biological process Positive regulation of monooxygenase activity IDA 19448135
GO:0055114 Biological process Oxidation-reduction process TAS 10048323
GO:0090346 Biological process Cellular organofluorine metabolic process IDA 19448135
GO:0043231 Cellular component Intracellular membrane-bounded organelle IDA 9618440
GO:0003958 Molecular function NADPH-hemoprotein reductase activity TAS 10048323
Protein Information
 
Protein Name
NADPH--cytochrome P450 reductase
 
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
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00175 NAD_binding_1 Oxidoreductase NAD-binding domain
PF00258 Flavodoxin_1 Flavodoxin
PF00667 FAD_binding_1 FAD binding domain
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Antley-Bixler skeletal malformation 16915000, 16103714
Antley-bixler syndrome 16998238, 15793702, 18630181, 16467261, 17960482, 15483095, 15316970, 16915000, 16684658, 16906539, 18455494, 15264278, 20124576, 15483095
Cancer (carcinoma) 15036858
Congenital malformation 18551037
Virilization 19258400, 15316970
   
References
 
Primary:

Disorders of androgen synthesis--from cholesterol to dehydroepiandrosterone.

Miller Walter L
Department of Pediatrics, University of California, San Francisco, California 94142-0978, USA. wlmlab@itsa.ucsf.edu
Med Princ Pract. 2005;14 Suppl 1:58-68.
 
Supporting Literature:
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 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25224484
The post-translational regulation of 17,20 lyase activity. 
In vitro 
23836902, PMC3745337
Phosphorylation of human cytochrome P450c17 by p38?? selectively increases 17,20 lyase activity and androgen biosynthesis. 
In vitro 

 

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