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1 to 25 of 283  Show
  1. 1
    "Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene."
    Higashi Y., Yoshioka H., Yamane M., Gotoh O., Fujii-Kuriyama Y.
    Proc. Natl. Acad. Sci. U.S.A. 83:2841-2845(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CYP21A2*1A).
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ALLELE CYP21A2*1B) (ISOFORM 1).
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  3. 3
    "Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia."
    Rodrigues N.R., Dunham I., Yu C.Y., Carroll M.C., Porter R.R., Campbell R.D.
    EMBO J. 6:1653-1661(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT AH3 THR-268, VARIANTS LEU-9 INS; ARG-102 AND SER-493, INVOLVEMENT IN AH3.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  4. 4
    "Nonsense mutation causing steroid 21-hydroxylase deficiency."
    Globerman H., Amor M., Parker K.L., New M.I., White P.C.
    J. Clin. Invest. 82:139-144(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT AH3 LEU-281, VARIANT LEU-9 INS.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  5. 5
    "R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions."
    Helmberg A., Tusie-Luna M.-T., Tabarelli M., Kofler R., White P.C.
    Mol. Endocrinol. 6:1318-1322(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-9 INS; ARG-102 AND SER-493, VARIANTS AH3 HIS-339 AND SER-453.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  6. 6
    "Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population."
    Blasko B., Banlaki Z., Gyapay G., Pozsonyi E., Sasvari-Szekely M., Rajczy K., Fust G., Szilagyi A.
    Mol. Immunol. 46:2623-2629(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 23 and mapped to 57 other entries.

  7. 7
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE CYP21A2*6) (ISOFORM 2).
    Category: Sequences.
    Tissue: Adrenal gland.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12930 other entries.

  8. 8
    "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 3680 other entries.

  9. 9
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  10. 10
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-493.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50477 other entries.

  11. 11
    "A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome."
    Collier S., Tassabehji M., Sinnott P., Strachan T.
    Nat. Genet. 3:260-265(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 109-185, VARIANT AH3 ASN-172.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  12. 12
    "Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man."
    Carroll M.C., Campbell R.D., Porter R.R.
    Proc. Natl. Acad. Sci. U.S.A. 82:521-525(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-182, VARIANT AH3 ASN-172.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  13. 13
    "Mutation in the CYP21B gene (Ile-172-->Asn) causes steroid 21-hydroxylase deficiency."
    Amor M., Parker K.L., Globerman H., New M.I., White P.C.
    Proc. Natl. Acad. Sci. U.S.A. 85:1600-1604(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-182, VARIANT AH3 ASN-172.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  14. 14
    "P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia."
    Matteson K.J., Phillips J.A. III, Miller W.L., Chung B.C., Orlando P.J., Frisch H., Ferrandez A., Burr I.M.
    Proc. Natl. Acad. Sci. U.S.A. 84:5858-5862(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 265-494 (ISOFORM 1), VARIANT AH3 LEU-281.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  15. 15
    "Human Cytochrome P450 21A2, the major steroid 21-hydroxylase: structure of the enzyme-progesterone substrate complex and rate-limiting c-h bond cleavage."
    Pallan P.S., Wang C., Lei L., Yoshimoto F.K., Auchus R.J., Waterman M.R., Guengerich F.P., Egli M.
    J. Biol. Chem. 290:13128-13143(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.64 ANGSTROMS) OF 29-494 IN COMPLEX WITH HEME AND PROGESTERONE, FUNCTION, COFACTOR, CATALYTIC ACTIVITY.
    Category: Function, Interaction, Structure.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 76 other entries.

  16. 16
    "Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively."
    Wu D.-A., Chung B.-C.
    J. Clin. Invest. 88:519-523(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT AH3 LEU-281, MUTAGENESIS OF SER-268 AND CYS-428.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  17. 17
    "Molecular genetics of 21-hydroxylase deficient late-onset adrenal hyperplasia."
    Gunn S.K., Sherman L.D., Therrell B.L., Owerbach D.I.
    Semin. Reprod. Endocrinol. 11:347-352(1993)
    Cited for: REVIEW ON AH3 VARIANTS.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  18. 18
    Cited for: REVIEW ON AH3 VARIANTS, GENE CONVERSION.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  19. 19
    "Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1."
    Speiser P.W., New M.I., White P.C.
    N. Engl. J. Med. 319:19-23(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH3 LEU-211 AND LEU-281.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  20. 20
    "A missense mutation at Ile172-->Asn or Arg356-->Trp causes steroid 21-hydroxylase deficiency."
    Chiou S.-H., Hu M.-C., Chung B.-C.
    J. Biol. Chem. 265:3549-3552(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH3 ASN-172 AND TRP-356, VARIANT LEU-9 INS.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  21. 21
    "Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia."
    Partanen J., Campbell R.D.
    Hum. Genet. 87:716-720(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH3 ASN-172.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  22. 22
    "A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele."
    Tusie-Luna M.T., Speiser P.W., Dumic M., New M.I., White P.C.
    Mol. Endocrinol. 5:685-692(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH3 LEU-30, VARIANT THR-268.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  23. 23
    "Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency."
    Speiser P.W., Dupont J., Zhu D., Serrat J., Buegeleisen M., Tusie-Luna M.-T., Lesser M., New M.I., White P.C.
    J. Clin. Invest. 90:584-595(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281 AND TRP-356.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  24. 24
    "Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency."
    Owerbach D., Sherman L., Ballard A.L., Azziz R.
    Mol. Endocrinol. 6:1211-1215(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH3 SER-453.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  25. 25
    "Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations."
    Wedell A., Ritzen E.M., Haglund-Stengler B., Luthman H.
    Proc. Natl. Acad. Sci. U.S.A. 89:7232-7236(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH3 LEU-105; SER-291 AND SER-453.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
1 to 25 of 283  Show
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