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Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2)

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CYP21B; CPS1; CA21H; CAH1; CYP21; CYP21-B; 21-OHase; Cytochrome P450 21B; Steroid 21-hydroxylase; Cytochrome P450,Family 21,Subfamily A,Polypeptide 2

Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2)
CCC B558
HGNC 2600
MGI 88591
PubMed 1978631
UniProt P08686
Wiki CYP21B

  • Steroid 21-hydroxylase is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone.A defect within the CYP21B gene causes a disturbance of the development of the enzyme, which leads to congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB558Hu01 Recombinant Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB558Hu01 Polyclonal Antibody to Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) WB; IHC; ICC; IP.
Assay Kits SEB558Hu ELISA Kit for Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB558Mu01 Recombinant Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB558Mu01 Polyclonal Antibody to Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) WB,IHC
Assay Kits n/a CLIA Kit for Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB558Ra01 Recombinant Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB558Ra01 Polyclonal Antibody to Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2) ELISA Kit Customized Service Offer
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  40. ErratumNat. Genet. 23:373-373(1999)
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  48. "Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect."J. Clin. Endocrinol. Metab. 87:4314-4317(2002) [PubMed] [Europe PMC] [Abstract]
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  52. "Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation."J. Clin. Endocrinol. Metab. 89:368-374(2004) [PubMed] [Europe PMC] [Abstract]
  53. "Three novel mutations in Japanese patients with 21-hydroxylase deficiency."Horm. Res. 61:126-132(2004) [PubMed] [Europe PMC] [Abstract]
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  56. "21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]
  57. "p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency."J. Clin. Endocrinol. Metab. 93:1901-1908(2008) [PubMed] [Europe PMC] [Abstract]
  58. "Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients."J. Clin. Endocrinol. Metab. 93:2416-2420(2008) [PubMed] [Europe PMC] [Abstract]
  59. "Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction."J. Clin. Endocrinol. Metab. 93:2891-2895(2008) [PubMed] [Europe PMC] [Abstract]
  60. "Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier."J. Clin. Endocrinol. Metab. 95:1288-1300(2010) [PubMed] [Europe PMC] [Abstract]