Literature summary for 7.2.2.9 extracted from

Kennerson, M.L.; Nicholson, G.A.; Kaler, S.G.; Kowalski, B.; Mercer, J.F.; Tang, J.; Llanos, R.M.; Chu, S.; Takata, R.I.; Speck-Martins, C.E.; Baets, J.; Almeida-Souza, L.; Fischer, D.; Timmerman, V.; Taylor, P.E.; Scherer, S.S.; Ferguson, T.A.; Bird, T.D.; De Jonghe, P.; Feely, S.M.; Shy, M.E.; Garbern, J.Y.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy (2010), Am. J. Hum. Genet., 86, 343-352.

Cloned(Commentary)

Cloned (Comment)	Organism
gene ATP7A, located on chromosome Xq13.1-q21, genotyping	Homo sapiens

Protein Variants	Comment	Organism
P1386S	naturally occuring mutation, a transition mutation of c.4156C>T in exon 22	Homo sapiens
T994I	naturally occuring mutation, a transition mutation of c.2981C>T in exon 15	Homo sapiens

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + H2O + Cu2+/in	Homo sapiens	-	ADP + phosphate + Cu2+/out	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene ATP7A	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + H2O + Cu2+/in	-	Homo sapiens	ADP + phosphate + Cu2+/out	-	?

Synonyms	Comment	Organism
copper transporter	-	Homo sapiens
More	the enzyme belongs to the P-type ATPases	Homo sapiens

General Information	Comment	Organism
additional information	mutation of ATP7A is involved in Menkes disease, a severe infantile-onset neurodegenerative disorder	Homo sapiens