The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma...
Sporadic hemiplegic migraine due to a missense variation in ATP1A2 gene in 2 children Zhang Huayong Ma Jiehui Sun Dan Authors Info & Affiliations Published: 2022 -06 -02 · DOI: 10.3760/cma.j.cn112140-20220110-00032900 110 0 1 12 5...
本发明第一个目的是提供一种具有新的突变位点的ATP1A2突变基因,ATP1A2正常基因的GeneID:477。 本发明第二个目的是提供检测上述突变位点的特异性引物对。 本发明第三个目的是提供上述ATP1A2突变基因及特异性引物对在制备癫痫辅助诊断试剂盒中的应用。 本发明第四个目的是提供一种癫痫辅助诊断试剂盒。 发明人通过分...
Mutations in the ATP1A2 gene have been associated with pure FHM (De Fusco et al., 2003; Riant et al., 2005; Vanmolkot et al., 2006) and FHM in combination with cerebellar ataxia (Spadaro et al., 2004), alternating hemiplegia of childhood (Bassi et al., 2004; Swoboda et al., ...
分类号:R742.3密级:单位代码:10422学号:200712898◎厶茹夕;孥夕≯办/’a硕士学位论文ShandongUniversityMaster’sThesis论文题目:儿童交替性偏瘫家系ATPlA2基因检测TheATPlA2genemutationdetetionofaaIternatinghemiPIegiaof‘iIdhoodram。IYmIPIchIdhoodamIOtl作者:**专业:神经病学导师:**教授合作导师:20**年5月10日...
Gene Symbol ATP1A2 Gene ID (NCBI) 477 RRID AB_2061149 Conjugate Unconjugated Form Liquid Purification Method Antigen affinity purification UNIPROT ID P50993 Storage Buffer PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage Conditions Store at -20°C. Stable for one year after shipme...
Gene Symbol ATP1A2 Gene ID (NCBI) 477 Conjugate Unconjugated Form Liquid Purification Method Protein A purification UNIPROT ID P50993 Storage Buffer PBS Only Storage Conditions Store at -80°C. The product is shipped with ice packs. Upon receipt, store it immediately at -80°CProteintech...
A pathogenic homozygous nonsense variant (c.1234C > T: p.Arg412*) in the ATP1A2 gene was found in newborns. This variant is reported as homozygous for the first time. The migraine symptoms were the result of the heterozygous state of this particular variant, which supported the dominant ...
Similar studies in the FHM2 ATP1A2 gene have not been performed because of the low number of carriers with individual mutations. Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium–potassium pump functioning in two Portuguese FHM families. Considerably ...
Calculated Molecular Weight 1020 aa, 112 kDa GenBank Accession Number BC052271 Gene Symbol ATP1A2 Gene ID (NCBI) 477 Conjugate Unconjugated Form Liquid Purification Method Protein G purification Storage Buffer PBS Only Storage Conditions Store at -80°C. Proteintech...