Literature summary for 1.3.3.4 extracted from

D'Amato, M.; Bonuglia, M.; Barile, S.; Griso, D.; Macri, A.; Biolcati, G.
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (2003), Hum. Mutat., 21, 448.

Search for more literature for 1.3.3.4

Cloned(Commentary)

Cloned (Comment)	Organism
gene PPOX, genetic analysis of variegate porphyria, VP, an acute hepatic porphyria, in Italy	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
I283N	naturally occurring mutation involved in pathology of variegate porphyria	Homo sapiens
additional information	identification of 9 mutation, including nonsense and deletion mutations, in the enzyme-encoding gene PPOX in italian population, mutations are associated with variegate porphyria, VP	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	mutations of enzyme-encoding gene PPOX are involved in variegate porphyria, an acute hepatic porphyria, which is characterized by skin lesions and acute neuropsychatric/cisceral attacks due to enzyme deficiency	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	mutations of enzyme-encoding gene PPOX are involved in variegate porphyria, an acute hepatic porphyria, which is characterized by skin lesions and acute neuropsychatric/cisceral attacks due to enzyme deficiency	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)