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Literature summary for 7.2.2.9 extracted from

  • Vulpe, C.; Levinson, B.; Whitney, S.; Packman, S.; Gitschier, J.
    Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase (1993), Nature, 3, 7-13.
    View publication on PubMed
Search for more literature for 7.2.2.9

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + H2O + Cu2+/in Homo sapiens the gene Mc1 is responsible for Menkes disease, an X-linked disorder of copper transport characterized by progressive neurological degeneration and death in early childhood ADP + phosphate + Cu2+/out
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Source Tissue

Source Tissue Comment Organism Textmining
brain
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 Homo sapiens
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fibroblast fibroblasts from the female Menkes translocation patient show no detectable expression of the transcript, five additional fibroblast lines from unrelated Menkes patients show alterations in the expression of this gene Homo sapiens
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heart
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 Homo sapiens
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kidney
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 Homo sapiens
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liver little or no activity Homo sapiens
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lung
-
 Homo sapiens
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pancreas
-
 Homo sapiens
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placenta
-
 Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + Cu2+/in the metal binding domain from the Wilson disease copper transporting P-type ATPase is able to bind a variety of transition metals with varying affinities Homo sapiens ADP + phosphate + Cu2+/out
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 ?
ATP + H2O + Cu2+/in the gene Mc1 is responsible for Menkes disease, an X-linked disorder of copper transport characterized by progressive neurological degeneration and death in early childhood Homo sapiens ADP + phosphate + Cu2+/out
-
 ?