菜单 基因医生

该基因编码的蛋白属于p型一级离子转运atp酶家族,其特征是在反应周期中形成一种磷酸天冬氨酸中间体。这些酶在很大浓度梯度下去除真核细胞中的二价钙离子,并在细胞内钙稳态中发挥关键作用。哺乳动物的质膜钙atp酶亚型由至少四个独立的基因编码,这些酶的多样性通过转录物的选择性剪接进一步增加。不同亚型和剪接变异体的表达以一种特定于组织和细胞类型的发育方式进行调节,这表明这些泵在功能上适应特定细胞和组织的生理需要。该基因编码质膜钙atp酶亚型3另外,还发现了编码不同亚型的剪接转录变体。[由RefSeq提供,2008年7月]
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

基因名:ATP2B3
别名:CLA2,OPCA,PMCA3,SCAX1,CFAP39,PMCA3a
基因ID:492
Chromosome:
(GRCh37)
X Start: 152783905 End: 152848387 Strand: 
信号通路:  
ATP2B3 基因突变与药物