Identity
HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
AHC2,ATP1A1,CAPOS,DYT12,RDP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 478
MIM: 182350
HGNC: 801
Ensembl: ENSG00000105409
Variants:
dbSNP: 478
ClinVar: 478
TCGA: ENSG00000105409
COSMIC: ATP1A3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38243045 | 2024 | Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis. | 1 |
| 38796484 | 2024 | Neuronal autosis is Na(+)/K(+)-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death. | 0 |
| 38243045 | 2024 | Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis. | 1 |
| 38796484 | 2024 | Neuronal autosis is Na(+)/K(+)-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death. | 0 |
| 36462665 | 2023 | Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome. | 3 |
| 36484864 | 2023 | ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA. | 1 |
| 36538131 | 2023 | Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family. | 0 |
| 37482377 | 2023 | Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features. | 0 |
| 37713494 | 2023 | ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids. | 8 |
| 36462665 | 2023 | Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome. | 3 |
| 36484864 | 2023 | ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA. | 1 |
| 36538131 | 2023 | Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family. | 0 |
| 37482377 | 2023 | Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features. | 0 |
| 37713494 | 2023 | ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids. | 8 |
| 34633143 | 2022 | Vanishing basal ganglia in ATP1A3-related polymicrogyria. | 0 |
Citation
Dessen P
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
Atlas Genet Cytogenet Oncol Haematol. 2011-05-01
Online version: http://atlasgeneticsoncology.org/gene/52224/atp1a3
