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This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
[中文简述(自动翻译):]  该基因编码的SERCA钙中的一个(2 +) - ATP酶,它是设在肌肉细胞的肌或内质网的细胞内的泵。这种酶催化ATP加上钙从细胞溶胶到肌质网腔易位水解,并参与肌肉激发和收缩。在这个基因的突变导致布罗迪某些疾病的常染色体隐性遗传形式,其特点是在运动中增加肌肉松弛受损。在三个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2013年10月提供]
ATP2A1基因(以及对应的蛋白质)的细胞分布位置:
ATP2A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Brody myopathy | 0.482714419 | 10 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Heart failure | 0.12 | 1 | 0 | CTD_human |
Cryptorchidism | 0.00272435 | 1 | 0 | LHGDN |
Observation of Neuromuscular Block | 0.001357209 | 5 | 0 | BeFree |
Myopathy | 0.000542884 | 2 | 0 | BeFree |
Isaacs syndrome | 0.000542884 | 2 | 0 | BeFree |
Glycogen Storage Disease Type V | 0.000271442 | 1 | 0 | BeFree |
Malignant hyperpyrexia due to anesthesia | 0.000271442 | 1 | 0 | BeFree |
Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
Fatigability | 0.000271442 | 1 | 0 | BeFree |
Central Core Myopathy (disorder) | 0.000271442 | 1 | 0 | BeFree |
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