ATP7A Back

ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of ATP7A
This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans-Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked cutis laxa, and occipital horn syndrome. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of ATP7A Add / Edit ATP7A: Annotations

No community annotations yet for ATP7A.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ATP7A is highly significantly mutated in
(none)
ATP7A is significantly mutated in
(none)
ATP7A is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ATP7A