1jpi | pdb_00001jpi
From Proteopedia
Phe232Leu mutant of human UROD, human uroporphyrinogen III decarboxylase
Disease
Known disease associated with this structure: Porphyria cutanea tarda OMIM:[176100], Porphyria, hepatoerythropoietic OMIM:[176100]
About this Structure
1JPI is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase., Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP, Blood. 2001 Dec 1;98(12):3179-85. PMID:11719352
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