2q6z | pdb_00002q6z

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Template:STRUCTURE 2q6z

File:2q6z.png

Uroporphyrinogen Decarboxylase G168R single mutant apo-enzyme

Template:ABSTRACT PUBMED 17240319

Disease

Known disease associated with this structure: Porphyria cutanea tarda OMIM:[176100], Porphyria, hepatoerythropoietic OMIM:[176100]

About this Structure

2Q6Z is a 1 chain structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP. Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). Transl Res. 2007 Feb;149(2):85-91. PMID:17240319 doi:10.1016/j.trsl.2006.08.006

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