RecName: Full=Copper-transporting ATPase 1; AltName: Full=Copper pump - Protein

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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype. [Eur J Med Genet. 2024]
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG. Eur J Med Genet. 2024 Feb; 67:104907. Epub 2023 Dec 21.
Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features. [Cancer Rep (Hoboken). 2023]
Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features.
Li S, Weng J, Xiao C, Lu J, Cao W, Song F, He Z, Zhang P, Zhu Z, Xu J. Cancer Rep (Hoboken). 2023 Dec; 6(12):e1904. Epub 2023 Oct 26.
[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].
Wang Z, Chen Q, Wang Y, Liu L, Li C. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10; 40(6):668-673.

RefSeq genomic sequence
See the genomic reference sequence for the ATP7A gene (NG_013224.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the ATP7A gene.

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Q04656 [Domain Mapping of Disease Mut...]
Q04656
Domain Mapping of Disease Mutations
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