ATP2C1 | definition of ATP2C1 by Medical dictionary
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ATP2C1 A gene on chromosome 3q22.1 that encodes a magnesium-dependent P-type ion transport ATPase, which catalyses the hydrolysis of ATP coupled with the transport of the calcium.
ATP2C1 mutations cause Hailey-Hailey disease.
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References in periodicals archive
ATP2C1 has been identified as the causative genes for HaileyHailey disease which encodes a secretory pathway Ca2+/Mn2+-ATPase (SPCA1) found in the Golgi apparatus.
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation.
Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1
in cultured normal human keratinocytes.