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Validated All-in-One™ qPCR Primer for ATP1A2(NM_000702.4) Search again
Product ID:
HQP150132
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
DEE98, FARIMPD, FHM2, MHP2
Gene Description:
ATPase Na+/K+ transporting subunit alpha 2
Target Gene Accession:
NM_000702.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
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 membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq].
Gene References into function
- 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
- Structural basis for alpha1 versus alpha2 isoform-distinct behavior of the Na,K-ATPase
- Haploinsufficiency of atp1a2 encoding the Na+/K+ pump alpha2 subunit is associated with familial hemiplegic migraine type 2
- 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
- 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.
- Elevated plasma cholesterol may be responsible for the inhibition of erythrocyte Na+-K+ ATPase activity
- first direct evidence of differential transcriptional control of ATP1A2 gene in the kidney and colon
- the T345A mutation co-segregated with hemiplegic migraine type 2 in our family and was not present in 132 healthy Finnish control individuals
- 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.
- 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.
- ATP1A2 gene is not associated with the more common migraine syndromes and is not one of the most common hemiplegic migraine genes.
- A novel ATP1A2 heterozygous missense mutation found in a family with multicase Alternating hemiplegia of childhood.
- Missense mutations in this enzyme subunit ause hemiplegic migraine.
- ATP1A2 mutation may have a role in familial hemiplegic migraine type 2 with cerebellar signs
- The entire carboxy-terminus of HKalpha2 is required for stable assembly with beta1-Na+,K+-ATPase and functionality.
- 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
- missense mutations R689Q and M731T in familial hemiplegic migraine type 2
- analysis of ATP1A2 mutations in familial hemiplegic migraine
- In conclusion we propose that rare variants in ATP1A2 are involved in the susceptibility to common forms of migraine.
- The authors 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.
- 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.
- Study shows that the ATP1A2 gene is probably not involved in migraine with aura.
- Results showed no evidence for a common contribution of ATP1A2 to the pathogenesis of complex inherited migraine with aura.
- analysis of two novel de novo missense mutations in ATP1A2, R593W and V628M, associated with pure familial hemiplegic migraine
- study to identify whether CACNA1A and ATP1A2 are or not related to Brazilian familial hemiplegic migraine
- Elevated Na+ -K+ -ATPase activity postexercise may contribute to reduced fatigue after training.
- Compound heterozygote found in familial hemiplegic migraine.
- confirm the involvement of ATP1A2 gene in the sporadic form of hemiplegic migraine
- the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families
- Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine .
- two novel ATP1A2 mutations that were identified in two Portuguese probands with hemiplegic migraine and interesting additional clinical features
- reconstituted FXYD1 protects both alpha1beta1 and alpha2beta1 very strongly against thermal inactivation
- Sequence variants were identified in seven SHM patients: one CACNA1A mutation, five ATP1A2 mutations, and one SCN1A polymorphism. All six mutations caused functional changes in cellular assays.
- D999H is a novel Hemiplegic Migraine, Familial ATP1A2 mutation in an Irish family.
- glyceryl trinitrate infusion failed to induce more migraine in FHM-2 patients than in controls
- Nineteen novel ATP1A2 mutations were identified last year, eleven of them migraine families. A systematic genetic analysis of patients with sporadic hemiplegic migraine revealed five mutations in this gene [review]
- In this study we document the absence of ATP1A2 mutations in two Italian sisters with menstrual BM, suggesting that other genes are involved in the condition.
- We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12.
- 4 new variants were found in exons of the ATP1A2 gene in sporadic hemiplegic migraine patients. It does not seem that ATP1A2 is a major gene in SHM.
- A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.
- Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.(
- the T378N mutation was not found in in five patients with alternating hemiplegia of childhood