Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

CYP21A1P gene

Known as: cytochrome P450 family 21 subfamily A member 1, pseudogene, CYP21A1P, P450c21A 
 
National Institutes of Health

Related topics

Related topics

1 relation
CYP21A2 protein, human

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by an enzymatic deficiency which… Expand
Is this relevant?
Review
2011
Review
2011
Molecular genetics of 21-hydroxylase deficiency.
More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2009
2009
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
BackgroundMore than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene… Expand
Is this relevant?
2009
2009
Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: a comparison of Asian-Indian and European American populations.
Inter-individual gene copy-number variations (CNVs) probably afford human populations the flexibility to respond to a variety of… Expand
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • table 2
Is this relevant?
2009
2009
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
BACKGROUND More than 90% of the cases of Congenital Adrenal Hyperplasia (CAH) are associated with mutations in 21-hydroxylase… Expand
Is this relevant?
2009
2009
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
BackgroundCongenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or… Expand
  • table 1
  • figure 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
2008
2008
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.
BACKGROUND Most patients with 21-hydroxylase deficiency carry CYP21A1P-derived mutations, but an increasing number of novel and… Expand
Is this relevant?
2007
2007
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
CONTEXT Most mutations causing 21-hydroxylase deficiency originate from microconversions between CYP21 pseudogenes and active… Expand
Is this relevant?
2006
2006
Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.
The 3.7- and 3.2-kb fragments produced by TaqI digestion are respective crucial markers of the CYP21A2 and CYP21A1P genes for the… Expand
Is this relevant?
1990
1990
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE