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  4. ATP1A2 Antibody

ATP1A2 Antibody

  • 货号：
    CSB-PA020068
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    P50993
  • 基因名：
  • 别名：
    AT1A2_HUMAN antibody; Atp1a2 antibody; FHM2 antibody; KIAA0778 antibody; MHP2 antibody; Na(+)/K(+) ATPase alpha-2 subunit antibody; Na+/K+ ATPase alpha 2 subunit antibody; Sodium potassium ATPase antibody; Sodium pump subunit alpha 2 antibody; Sodium pump subunit alpha-2 antibody; Sodium/potassium transporting ATPase alpha 2 chain antibody; Sodium/potassium transporting ATPase subunit alpha 2 antibody; Sodium/potassium-transporting ATPase subunit alpha-2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat,Monkey
  • 免疫原：
    Synthesized peptide derived from the C-terminal region of Human Na+/K+-ATPase α2.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:20000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.
  • 基因功能参考文献：
    1. The sporadic hemiplegic migraine is caused mutation of ATP1A2 gene. PMID: 29904856
    2. A novel p.Arg348Pro ATP1A2 mutation was found in 14 family members: 12 with clinical familial hemiplegic migraine (FHM), one with psychomotor retardation and possible FHM, and one without FHM features PMID: 27226003
    3. On the other hand, the presence of KCNK18 mutation indicated another FHM subtype. PMID: 26747084
    4. A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine PMID: 25138102
    5. Data indicate that a second-site mutation distant from Na+ site III increases Na+ affinity, Na(+),K(+)-ATPase activity, and cellular K+ uptake in mutants with the replacement of the aspartate. PMID: 25713066
    6. genome-wide linkage analysis of the migraine phenotype in 38 families with Rolandic epilepsy; evidence found of linkage to migraine at chromosome 17q12-22 and suggestive evidence at 1q23.1-23.2, centering over the FHM2 locus PMID: 24286483
    7. Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. PMID: 24096472
    8. mutations in the ATP1A2 gene might contribute to pulmonary arterial remodelling and pulmonary arterial hypertension PMID: 24136331
    9. Identification of a novel heterozygous mutation in the ATP1A2 gene (c.1766T>C, Ile589Thr) causing atypical alternating hemiplegia of childhood in a Saudi consanguineous family PMID: 24097848
    10. In this family, benign familial infantile seizures (BFIS) are caused by a PRRT2 mutation and hemiplegic migraine by p.Arg689Gln ATPase ATP1A2 mutation. PMID: 24928127
    11. The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders. PMID: 23918834
    12. We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation PMID: 23838748
    13. Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease PMID: 24356962
    14. genetic testing showed a mutation in the ATP1A2 gene OF two patients suffering from migraine with aura since youth PMID: 23821026
    15. ATP1A2 missense mutations are associated with familial hemiplegic migraine. PMID: 23954377
    16. Data indicate that (4-Chloro-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone and (4-bromo-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone inhibited cell growth through inhibition of both alpha-1 Na(+)/K(+)-ATPase (NAK) and Ras oncogene activity. PMID: 23474907
    17. examined a family with a FHM phenotype due to a M731T mutation in ATP1A2. A 10-year follow-up allowed us to observe complex auras, including psychotic symptoms in two siblings PMID: 22661290
    18. Skeletal muscle in elderly individuals was characterized by decreased NKA alpha(2) protein abundance, but unchanged [(3)H]ouabain binding. PMID: 22936730
    19. cerebral blood flow changes during attacks of hemiplegic migraine with prolonged aura longer than 24 h in patients with familial hemiplegic migraine with a novel gene mutation; s identified a novel heterozygous p.H916L mutation in the ATP1A2 gene in all three individuals in the family PMID: 22013243
    20. Data show that protein kinase A (PKA) phosphorylation has a drastic impact on Na(+)/K(+)-ATPase (NKA) structure and dynamics. PMID: 22433860
    21. Altered dopamine signaling in Na,K-ATPasealpha2 transgenic mice contributes to reduced startle reactivity, lack of habituation, disruption of navigational circuitry, and impaired egocentric learning. PMID: 20936682
    22. Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. PMID: 22117059
    23. Na(+)/K(+)-ATPase haploinsufficiency caused by the ATP1A2 p.G301R mutation is responsible for familial hemiplegic migraine in the described family. PMID: 21398422
    24. these results demonstrate a more frequent involvement of the ATP1A2 gene in the sporadic as well as familial forms of hemiplegic migraine in Italian patients without permanent cerebellar signs PMID: 21533730
    25. ATP1A2 gene is involved in early-onset sporadic hemiplegic migraine, in particular when associated with neurologic signs PMID: 20837964
    26. Using the human alpha2 isoform, a novel model for ion transport by the Na+/K+-ATPase is established by electrophysiological studies of C-terminal mutations in familial hemiplegic migraine 2. PMID: 20720542
    27. deletion of two tyrosines at the carboxy terminus of the human Na(+)/K(+)-ATPase alpha(2) subunit decreases the affinity for extracellular and intracellular Na(+). PMID: 20100892
    28. fat mass, low-density lipoprotein cholesterol, and skeletal muscle glycolytic-to-oxidative enzyme ratio increased more in the alpha2-gene negative subjects with overfeeding, suggesting more unfavorable metabolic changes compared with the (+) subjects PMID: 12496141
    29. Structural basis for alpha1 versus alpha2 isoform-distinct behavior of the Na,K-ATPase PMID: 12529322
    30. Haploinsufficiency of atp1a2 encoding the Na+/K+ pump alpha2 subunit is associated with familial hemiplegic migraine type 2 PMID: 12539047
    31. novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with familial hemiplegic migraine (FHM). affected family members with FHM, benign familial infantile convulsions, or both, carry the mutation PMID: 12953268
    32. Patients with type 2 diabetes and controls were leg strength-trained for 30 min 3x per week for 6 weeks. In control subjects Na,K-pump alpha2 was increased by 21% in trained compared to untrained leg, and in diabetics alpha2 content was 41% higher. PMID: 14685860
    33. Elevated plasma cholesterol may be responsible for the inhibition of erythrocyte Na+-K+ ATPase activity PMID: 14690302
    34. first direct evidence of differential transcriptional control of ATP1A2 gene in the kidney and colon PMID: 14871878
    35. the T345A mutation co-segregated with hemiplegic migraine type 2 in our family and was not present in 132 healthy Finnish control individuals PMID: 15133718
    36. 3 putative A1A2 mutations (D718N, R763H, P979L) &3 that await validation (P796R, E902K, X1021R)were found in familial hemiplegic migraine. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM. PMID: 15159495
    37. This study report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. PMID: 15174025
    38. ATP1A2 gene is not associated with the more common migraine syndromes and is not one of the most common hemiplegic migraine genes. PMID: 15210532
    39. A novel ATP1A2 heterozygous missense mutation found in a family with multicase Alternating hemiplegia of childhood. PMID: 15286158
    40. Missense mutations in this enzyme subunit ause hemiplegic migraine. PMID: 15308625
    41. ATP1A2 mutation may have a role in familial hemiplegic migraine type 2 with cerebellar signs PMID: 15459825
    42. The entire carboxy-terminus of HKalpha2 is required for stable assembly with beta1-Na+,K+-ATPase and functionality. PMID: 15569317
    43. The ATP1A2 gene does not appear to be involved in the ethiopathogenesis of pure benign familial infantile seizures, at least in the explored Italian multiplex families PMID: 16026932
    44. missense mutations R689Q and M731T in familial hemiplegic migraine type 2 PMID: 16037212
    45. analysis of ATP1A2 mutations in familial hemiplegic migraine PMID: 16088919
    46. In conclusion we propose that rare variants in ATP1A2 are involved in the susceptibility to common forms of migraine. PMID: 16110494
    47. The s detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders. PMID: 16344534
    48. This study identified a novel G615R ATP1A2 mutation in the proband and several of her family members. Functional analysis of mutant Na,K-ATPase in cellular survival assays showed a complete loss-of-function effect. PMID: 16437583
    49. Study shows that the ATP1A2 gene is probably not involved in migraine with aura. PMID: 16508934
    50. Results showed no evidence for a common contribution of ATP1A2 to the pathogenesis of complex inherited migraine with aura. PMID: 16508935

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  • 相关疾病：
    Migraine, familial hemiplegic, 2 (FHM2); Alternating hemiplegia of childhood 1 (AHC1)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Cation transport ATPase (P-type) (TC 3.A.3) family, Type IIC subfamily
  • 数据库链接：

    HGNC: 800

    OMIM: 104290

    KEGG: hsa:477

    STRING: 9606.ENSP00000354490

    UniGene: Hs.34114