1tg2

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Image:1tg2.png

Template:STRUCTURE 1tg2

Contents

Crystal structure of phenylalanine hydroxylase A313T mutant with 7,8-dihydrobiopterin bound

Template:ABSTRACT PUBMED 15557004

Disease

Known disease associated with this structure: Phenylketonuria OMIM:[612349], Hyperphenylalaninemia, mild OMIM:[612349]

About this Structure

1TG2 is a 1 chain structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martinez A, Stevens RC. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16903-8. Epub 2004 Nov 19. PMID:15557004

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