NCBI Description of POR
|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. CCDS Note: This CCDS representation uses the 5'-most in-frame start codon, which is conserved in higher primate species. This starting position is most commonly referred to in the literature, and the numbering system used to describe disease-associated mutations is based on this protein start. This includes data in the P450 oxidoreductase (POR) allele nomenclature locus-specific database, and the Human Gene Mutation Database (HGMD). This start codon is restricted to higher primate species, and it has a weak Kozak signal. However, it should be noted that an alternative downstream start codon, which has a strong Kozak signal and is much more widely conserved, is also present. The use of this downstream start codon would result in a protein that is 3 aa shorter at the N-terminus. Protein sequencing in PMID:2513880 indicates that this is the preferred start codon in vivo. It is therefore possible that the ribosome will initiate at the upstream start codon only a small fraction of the time (if at all), while leaky scanning will allow the downstream start codon to be used predominantly.|
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