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

Смотрите также:

  • 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);