The plasma membrane calcium ATPase and disease

Sub-cellular Biochemistry
B L Tempel, D J Shilling

Abstract

The plasma membrane calcium ATPase (PMCA) uses energy to pump calcium (Ca2+) ions out of the cytosol into the extracellular milieu, usually against a strong chemical gradient. This energy expenditure is necessary to maintain a relatively low intracellular net Ca2+ load. Mammals have four genes (ATP2B1-ATP2B4), encoding the proteins PMCA1 through PMCA4. Transcripts from each of these genes are alternatively spliced to generate several variant proteins that are in turn post-translationally modified in a variety of ways. Expressed ubiquitously and with some level of functional redundancy in most vital tissues, only one of the four genes--Atp2b2--has been causally linked through naturally occuring mutations to disease in mammals: specifically to deafness and ataxia in spontaneous mouse mutants. In humans, a missense amino acid substitution in PMCA2 modifies the severity of hearing loss. Targeted null mutations of the Atp2b1 and Atp2b4 genes in mouse are embryonic lethal and cause a sperm motility defect, respectively. These phenotypes point to complex human diseases like hearing loss, cardiac function and infertility. Changes in PMCA expression are associated with other diseases including cataract formation, carciniogenesis, diabet...Continue Reading

Citations

Jun 9, 2016·Molecular Neurobiology·Ouafa NajybEric Rassart
May 5, 2011·World Journal of Biological Chemistry·Amanda Kathleen Fakira, Stella Elkabes
Apr 15, 2009·The Journal of Comparative Neurology·Yuan WangEdwin W Rubel
Jul 12, 2011·Biochemical and Biophysical Research Communications·Michalina KosiorekSlawomir Pikula

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