Gene: [06p2133/CYP21] cytochrome P450, subfamily XXI (steroid 21-hydroxylase); steroid 21-hydroxylase (congenital adrenal hyperplasia); adrenal hyperplasia III (steroid 21-hydroxylase deficiency);

FUN

 Systematic name: steroid,hydrogen donor:oxygen oxidoreductase (21 hydroxylating). The reaction catalyzed: a steroid + AH(2) + O(2) = = a 21-hydroxysteroid + A + H(2)O."

PSG

 GEM:06p2133/CYP21P.

REL

 FAM:CYP21/06p2133; FAM:CYP/00.0.

REF

 MUT,MOL "Amor M &: PNAS, 85, N5, 1600-1604, 1988
LOC,LIN "Aston &: AJHG, 43, 304-310, 1988
PAT,MEB,PHE,FOG "Chrousos &: Ann Int Med, 96, 143-148, 1982
POL,MOL,LIN "Donohue &: BBRC, 136, 722-729, 1986
PAT,MEB,PHE,FOG "Dumic &: Acta Endocrinol, 109, 386-392, 1985
POL,MOL,LIN "Fleischnick E &: Lancet, 1, 152-156, 1983
MUT,MOL "Globerman H &: J Clin Invest, 82, 139-144, 1988
REV,EVO,STR,FUN "Gonzalez &: Cold Spring Harbor Symp, 51, (Part 2), 879-890, 1986
PAT,MEB,PHE,FOG "Gordon MT &: J Med Genet, 22, 354-360, 1985
MUT,MOL "Harada &: PNAS, 84, N22, 8091-8094, 1987
MUT,MOL "Higashi Y &: AJHG, 42, 17-25, 1988
GEN,SEQ,MAF "Higashi Y &: PNAS, 83, N9, 2841-2845, 1986
PAT,MEB,PHE,FOG "Holler W &: J Clin Endocrinol Metab, 60, 757-763, 1985
PND "Hughes &: J Med Genet, 24, 344-347, 1987
MUT,MOL "Jospe N &: BBRC, 142, 798-804, 1987
LOC,LIN "Klouda &: J Med Genet, 17, 337-341, 1980
PAT,MEB,PHE,FOG "Kuttenn &: New Engl J Med, 313, 224-231, 1985
PAT,MEB,PHE,FOG "Layrisse &: Immunogenetics, 25, 99-103, 1987
PAT,MEB,PHE,FOG "Levine &: J Clin Endocrinol Metab, 53, 1193-1198, 1981
PAT,MEB,PHE,FOG "Levine &: J Clin Endocrinol Metab, 51, 1316-1324, 1980
LOC,LIN "Levine &: New Engl J Med, 299, 911-915, 1978
PRO,SEQ,EXP,MUT,MOL "Matteson KJ &: PNAS, 84, N16, 5858-5862, 1987
PND "Merkatz &: J Pediatr, 75, 977-982, 1969
MUT,MOL "Miller WL: AJHG, 42, N1, 4-7, 1988
PND "Mornet E &: Hum Genet, 73, 358-364, 1986a
POL,MOL,LIN "Mornet E &: Hum Genet, 74, 402-408, 1986b
REV,EVO,STR,FUN "Nebert &: DNA, 8, N1, 1-13, 1989
REV,EVO,STR,FUN "Nebert &: DNA, 6, N1, 1-11, 1987a
REV,EVO,STR,FUN "Nebert, Gonzalez: Annu Rev Biochem, 56, 945-993, 1987b
PAT,MEB,PHE,FOG "New MI: Endocrine Res, 12, N4, 505-522, 1986
PAT,MEB,PHE,FOG "New MI, Levine: Annu Rev Med, 35, 649-663, 1984
PAT,MEB,PHE,FOG "New MI &: J Clin Endocrinol Metab, 57, 320-326, 1983
PND "Pang S &: J Clin Endocrinol Metab, 61, 89-97, 1985
POL,MOL,LIN "Pollack MS &: AJHG, 38, 688-698, 1986
PND "Pollack MS &: Lancet, 1, 1107-1108, 1979
LOC,LIN "Puchold &: J Med Genet, 17, 447-452, 1980
MUT,MOL "Rodrigues NR &: EMBO J, 6, 1653-1661, 1987
PND "Rosenmann &: AJHG, 6, 295-300, 1980
MUT,MOL "Rumsby &: J Med Genet, 23, 204-209, 1986
POL,MOL,LIN "Schneider PM &: J Clin Invest, 78, 650-657, 1986
MUT,MOL "Speiser &: New Engl J Med, 319, N1, 19-23, 1988
PAT,MEB,PHE,FOG "Speiser, New: Trends Genet, 1, 275-278, 1985a
PAT,MEB,PHE,FOG "Sreiser &: AJHG, 37, 650-667, 1985b
PND "Warsof &: Obstet Gynecol, 55, 751-754, 1980
PAT,MEB,PHE,FOG "Waterman &: Endocrine Res, 12, N4, 393-408, 1986
LOC,LIN "Webb T &: Clin Genet, 17, 349-354, 1980
PAT,MEB,PHE,FOG "Werder &: Helv Paediat Acta, 35, 5-11, 1980
MUT,MOL "Werkmeister JW &: AJHG, 39, 461-469, 1986
MUT,MOL "White PC &: PNAS, 85, N12, 4436-4440, 1988
PAT,MEB,PHE,FOG "White PC &: New Engl J Med, 316, 1519-1524, 1987
GEN,SEQ,MAF "White PC &: PNAS, 83, N14, 5111-5115, 1986
LOC,LIN "White PC &: PNAS, 82, 1089-1093, 1985
MUT,MOL "White PC &: PNAS, 81, 7505-7509, 1984
LOC,LIN "Yang &: Transplant Proc, 10, 753-755, 1978

KEY

 sex, xen, horm, ster

CLA

 coding, basic

LOC

 06 p21.33

MIM

 MIM: 201910

EZN

 ENZYME: 1.14.99.10

Ссылки: