Literature summary for 7.2.2.9 extracted from

Yan, S.; Wu, G.
Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases (2008), Mol. Divers., 12, 119-129.

Search for more literature for 7.2.2.9

Cloned(Commentary)

Cloned (Comment)	Organism
ATP7A and ATP7B genotyping	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. Mutations in ATP7B can cause Wilson disease which is an autosomal recessive disorder of copper toxicity. The vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, quantitative comparison of wild-type and mutant ATP7A and ATP7B, statistical validation, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. Mutations in ATP7B can cause Wilson disease which is an autosomal recessive disorder of copper toxicity. The vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, quantitative comparison of wild-type and mutant ATP7A and ATP7B, statistical validation, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
copper-transporting ATPase	-	Homo sapiens

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Release 2023.1 (January 2023)