Gene: [01p36/PLOD1] procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 1; Ehlers-Danlos syndrome, type VI (MIM:225400);
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FUN |
[1] Systematic name:
Procollagen L-lysine,2-oxoglutarate:oxygen oxidoreductase
(5-hydroxylating).
[2] Reaction catalyzed: Procollagen L-lysine + 2-oxoglutarate + O(2) = = procollagen 5-hydroxy-L-lysine + succinate + CO(2)." |
|
REL |
GEM:03q2/PLOD2. |
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REF |
MUT "Ha VT &: J Clin Invest, 93, N4, 1716-1721, 1994 MUT "Hautala T &: Genomics, 15, 399-404, 1993 CLO,SEQ,COD,LOC,CYG,MOL "Hautala T &: Genomics, 13, N1 (May), 62-69, 1992 MOP,MUT "Heikkinen J &: AJHG, 60, N1, 48-56, 1997 CLO,SEQ,GEN,EXP "Heikkinen J &: Genomics, 24, 464-471, 1994 MUT,MOL,PAT "Hyland J &: Nature Genet, 2, N3 (Nov), 228-231, 1992 FUN,PEP "LaBelle EF, Hajira AK: JBC, 247, N18, 5825-5834, 1972 MUT "Pousi B &: AJHG, 55, N5, 899-906, 1994 |
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KEY |
exce, mtbd, pep |
|
CLA |
coding, basic |
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LOC |
01 p36.3-.2 |
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MIM |
MIM: 153454 |
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EZN |
ENZYME: 1.14.11.4 |
