ATP2C1 Back

ATPase, Ca++ transporting, type 2C, member 1

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NCBI Description of ATP2C1
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.

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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

ATP2C1 is highly significantly mutated in
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ATP2C1 is significantly mutated in
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ATP2C1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ATP2C1