Gene: [10q22/PCBD] pterin-4-alpha-carbinolamine dehydratase; dimerization cofactor of hepatocyte nuclear factor 1 alpha; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor; hyperphenylalaninemia, mild (MIM:264070);
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FUN |
PCBD is a 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (GEM:12q243/TCF1)." |
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FAG |
A 6-pyruvoyltetrahydropterin synthase (EC:4.6.1.10) is mapped to Chr 11q2 (GEM:11q2/PTS)." |
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REF |
MUT,PAT "Citron BA &: AJHG, 53, 768-774, 1993 CLO,SEQ "Hauer CR &: JBC, 268, 4828-4831, 1993 MUT,PAT "Johnen G &: PNAS, 92, 12384-12388, 1995 CLO,SEQ "Mendel DB &: Science, 254, 1762-1767, 1991 LOC "Milatovich A &: Genomics, 16, 292-295, 1993 CLO,SEQ,STR "Thony B &: BBRC, 210, 966-973, 1995 LOC "Thony B &: Genomics, 19, 365-368, 1994 |
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CLA |
coding, basic |
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LOC |
10 q22 |
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MIM |
MIM: 126090 |
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EZN |
ENZYME: 4.2.1.96 |
