Gene: [10q243/CYP17] cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase); adrenal hyperplasia V (17-alpha-hydroxylase deficiency);
|
FUN |
Systematic name: steroid,hydrogen donor:oxygen oxidoreductase
(17-alpha-hydroxylating). Catalyzes reaction: a steroid + AH(2) + O(2) = a 17-alpha-hydroxysteroid + A + H(2)O." |
|
HET |
Five types of adrenal hyperplasia are known. Four of them are related to the defects of different cytochrome P450 isoforms. For more details, see GEM:06p2133/CYP21." |
|
REL |
FAM:CYP2C/10q241. |
|
REF |
PAT,PHE,MEB "Biglieri &: J Clin Invest, 45, 1946-1954, 1966 CLO,SEQ,EXP "Chung BC &: PNAS, 84, N2, 407-411, 1987 LOC "Fan YS &: Genomics, 14, 1110-1111, 1992 PAT,PHE,MEB "Goldsmith &: New Engl J Med, 277, 673-677, 1967 PAT,PHE,MEB,MUT "Kagimoto K &: Hum Genet, 82, 285-286, 1989 FUN "Krohn K &: Lancet, 339, 770-773, 1992 LOC,CYG,MOL "Matteson KJ &: J Clin Endocrinol Metab, 63, 789-791, 1986 REV,GEN,STR,FAG "Miller WL: J Steroid Biochem, 27, N4-6, 759-766, 1987 REV,PAT,MEB "New MI: Annu Rev Med, 49, 311-328, 1998 LOC,MAP "Nikali K &: Genomics, 39, N2, 185-191, 1997 CLO,SEQ,EXP "Picado-Leonard J, Miller: DNA, 6, N5, 439-448, 1987 PAT,PHE,MEB "Rovner DR, Gordon: Trans Assoc Am Phys, 91, 416-423, 1978 LOC "Sparkes RS &: DNA Cell Biol, 10, 359-365, 1991 EXP,MOL "Waterman &: Endocrine Res, 12, N4, 393-408, 1986 PAT,PHE,MEB "Yazaki &: Neurology, 32, 94-97, 1982 |
|
KEY |
xen, sex |
|
CLA |
coding, basic |
|
LOC |
10 q24.3 |
|
MIM |
MIM: 202110 |
|
EZN |
ENZYME: 1.14.99.9 |
