CYP21A2P
cytochrome P450 family 21 subfamily A member 2, pseudogene (HGNC: CYP21A1P)
Theoretical — per Powers
Narrative library record
Function
Nonfunctional pseudogene sharing about 98 percent exon sequence identity with CYP21A2, carrying deteriorating mutations (frameshifts, premature stop codons); it acts as the reservoir for gene-conversion events that create most pathogenic CYP21A2 alleles.
Corpus relevance
Adjacent pseudogene (not PFS-specific): Powers discussed the CYP21A2 pseudogene in his MTF adrenal post, hypothesizing that extra transcribed pseudogene copies could double cortisol output. The highly homologous locus (CYP21A1P per HGNC convention) underpins the gene-conversion mechanism behind most 21-hydroxylase-deficiency alleles. Included as adjacent context; flagged as not a PFS claim. Attribution: theoretical-per-Powers (adjacent).
Powers’ claims naming CYP21A2P
- Powers gene claim
CYP21A2; CYP21A2P — hypothesized reduced functional copies (one normal + one weak, two weak, single weak) or extra transcribed pseudogene copies
Confidence: direct (adjacent)
Some patients may carry fewer than two fully functional CYP21A2 copies, producing a subclinical adrenal-insufficiency picture: poor stress tolerance with paradoxical androgen byproduct synthesis (elevated 11-oxo-androgens on Labcorp panel) during stress…
CYP21A2CYP21A2PPGL-CYP21A2-CYP21A2P2016PFS
Mentioned in 1 corpus record
- Gene recordPowers’ theory
Adrenal endoplasmic-reticulum P450 (steroid 21-hydroxylase) required for cortisol and aldosterone synthesis, converting progesterone and 17-hydroxyprogesterone toward their 21-hydroxylated products; mutations are the cause of congenital adrenal hyperplasia.
CYP11A1CYP17A1CYP21A2CYP21A2PHSD3B2GENE-CYP21A2PFSCore corpus