ATP2A2
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
- acrokeratosis verruciformis of Hopf
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#