Gene: [11q2/PTS] 6-pyruvoyltetrahydropterin synthase; hyperphenylalaninemia (due to PTS deficiency);
PSG | GEM:00.0/PTSP1. |
REF | CLO,SEQ,MUT "Ashida A
&: Genomics, 24, 408-410, 1994 CLO,SEQ,MUT "Thony B &: AJHG, 54, N5, 782-792, 1994a CLO,LOC "Thony B &: Genomics, 19, 365-368, 1994b |
SWI | SWISSPROT: Q03393 |
CLA | coding, basic |
LOC | 11 q22.3-23 |
MIM | MIM: 261640 |
EZN | ENZYME: 4.6.1.10 |
