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Literature summary for 4.1.1.37 extracted from

  • Remenyik, E.; Lecha, M.; Badenas, C.; Koszo, F.; Vass, V.; Herrero, C.; Varga, V.; Emri, G.; Balogh, A.; Horkay, I.
    Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene (2008), Clin. Exp. Dermatol., 33, 602-605.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
M1V/P235S the mutation is associated with UROD deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Uroporphyrinogen III
-
Homo sapiens Coproporphyrinogen III + 4 CO2
-
?

Synonyms

Synonyms Comment Organism
UROD1
-
Homo sapiens
uroporphyrinogen decarboxylase 1
-
Homo sapiens