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Gene Review

urod  -  uroporphyrinogen decarboxylase

Danio rerio

Synonyms: SO:0000704, UPD, URO-D, Uroporphyrinogen decarboxylase
 
 
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Disease relevance of urod

  • Here we show that the porphyric phenotype is due to an inherited homozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD); a homozygous deficiency of this enzyme causes hepatoerythropoietic porphyria (HEP) in humans [1].
 

High impact information on urod

 

Analytical, diagnostic and therapeutic context of urod

  • The zebrafish mutant represents the first genetically 'accurate' animal model of HEP, and should be useful for studying the pathogenesis of UROD deficiency and evaluating gene therapy vectors [1].

References

  1. A zebrafish model for hepatoerythropoietic porphyria. Wang, H., Long, Q., Marty, S.D., Sassa, S., Lin, S. Nat. Genet. (1998) [Pubmed]
  2. Effective targeted gene 'knockdown' in zebrafish. Nasevicius, A., Ekker, S.C. Nat. Genet. (2000) [Pubmed]
 
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