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ATP2A2
MIM.108740
Monday 1 November 2004
Definition: The SERCA Ca(2+)-ATPases (ATP2As) are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. They are closely related to the plasma membrane Ca(2+)-ATPases or PMCAs, like ATP2B1.
Pathology
germline mutations in the gene ATP2A2 encoding the SERCA2 Ca(2+)-ATPase (MIM.108740) in:
- Darier disease (MIM.124200)
- acrokeratosis verruciformis of Hopf (MIM.101900)
Alterations in ATP2A2 in association with head and neck squamous cell carcinoma (18295663)
See also
ATP2As | ATP2A1 | ATP2A2 |
References
Korosec B, Glavac D, Volavsek M, Ravnik-Glavac M. Alterations in genes encoding sarcoplasmic-endoplasmic reticulum Ca(2+) pumps in association with head and neck squamous cell carcinoma. Cancer Genet Cytogenet. 2008 Mar;181(2):112-8. PMID: 18295663