| Author/Editor | Korošec, Branka | |
| Title | Vloga genov ATP2A2 in ATP2A3 pri različnih vrstah malignih tumorjev | |
| Translated title | The role of ATP2A2 and ATP2A3 genes in different malignant tumours | |
| Type | monografija | |
| Place | Ljubljana | |
| Publisher | Univerza v Ljubljani, Medicinska fakulteta | |
| Publication year | 2006 | |
| Volume | str. 90 | |
| Language | slo | |
| Abstract | Cytosolic calcium (Ca2+) plays a key role in a number of cell functions including contraction, gene expression, cell proliferation, differentiation and apoptosis. Accumulation of Ca2+ within endoplasmic reticulum is mediated by sarco/endo plasmic reticulum calcium ATPases (SERCA). Sarco/endoplasmic reticulum ATPases are encoded by three separate genes ATP2A1, ATP2A2 and ATP2A3. ATP2A2 encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2), a Ca2+ pump that has a pivotal role in intracellular Caz+ signalling. Together with the highly related SERCAI and SERCA3 isoforms encoded by ATP2A1 and ATP2A3, respectively, SERCA pumps belong to the large family of P-type canon pumps that couple ATP hydrolysis with canon transport across membranes and maintain low cytosolic Ca2+ concentration by actively transporting Ca2+ from the cytosol into the sarco/endoplasmic reticulum lumen. ATP2A2 encodes two alternatively spliced transcripts, ATP2A2a and ATP2A2b. SERCA2b is presented in smooth muscle and non-muscle tissues and is thought to be the major endoplasmic reticulum Ca2+ - pump. SERCA3 has been identified as a nonmuscle SERCA type (SERCA3a according to the new nomenclature) and is expressed in different cell types such as lymphoid cells, platelets, endothelial cells, intestinal epithelial cells and cerebellar Purkynje neurons. ATP2A3 gene consists of 23 exons and up to day six different isoform has been identified differing in carboxy terminal sequences. Mutations in ATP2A2 gene cause Darier s disease in humans, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinizations. (Abstract truncated at 2000 characters) | |
| Descriptors | HEAD AND NECK NEOPLASMS LUNG NEOPLASMS COLONIC NEOPLASMS BRAIN NEOPLASMS PROSTATIC NEOPLASMS MUTATION INTRONS ADENOSINETRIPHOSPHATASE POLYMERASE CHAIN REACTION POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL BASE SEQUENCE CHROMATOGRAPHY, HIGH PRESSURE LIQUID |