ATP1A3
- Known as:
- ATP1A3
- Catalog number:
- 002163A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP1A3
Related genes to: ATP1A3
- Gene:
- ATP1A3 NIH gene
- Name:
- ATPase Na+/K+ transporting subunit alpha 3
- Previous symbol:
- DYT12
- Synonyms:
- -
- Chromosome:
- 19q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ATP1A3
Related articles to: ATP1A3
- Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder, primarily caused by pathogenic variants in ATP1A3 that account for approximately 80% of cases. It is characterized by both paroxysmal and chronic neurologic features. Currently, no validated, disease-specific clinical outcome measures exist for AHC, limiting standardized assessment and longitudinal tracking. We aimed to develop and validate the AHC Rating Scale (AHC-RS), a tool applicable across all age groups. We hypothesized that the AHC-RS would demonstrate strong inter-rater reliability and construct validity. - Source: PubMed
Publication date: 2026/09/28
Stagnaro MichelaFons CarmenPanagiotakaki EleniSignori AlessioTiziano Francesco DaniloCordani RamonaPisciotta LiviaNobili LinoAnticona JenniferCampistol Plana JaumePapadopoulou Maria TPapathanasiou Terzi Matthildi AthinaArzimanoglou Alexis AMikati Mohamad ARoubertie AgatheBhatia Kailash PDe Grandis Elisa - Many disease-associated variants are thought to act through gene regulation, yet conventional eQTL mapping explains only a fraction of GWAS loci, potentially because regulatory effects vary across cellular states and environments. We present CASTIE, a scalable Poisson mixed-model framework that directly models sparse single-cell read counts and enables genome-wide testing of genotype-by-context interactions without pre-screening for static effects. Applying CASTIE to 1.2 million peripheral blood mononuclear cells from 982 OneK1K donors identified 3,155 context-dependent eQTL associations, including 2,022 eGenes without detectable static effects. These associations yielded 374 colocalizations across 94 traits, representing 270 unique loci, of which 197 were not recovered using the corresponding static eQTLs. The colocalizations linked trait associations to specific cellular contexts and genes, including and . In adipose-derived mesenchymal stem cells exposed to metabolic stimulations, CASTIE increased eGene discovery by 36 - 92% across cell populations and identified stimulation-dependent regulatory effects at metabolic trait loci. Thus, modeling cellular context reveals disease-relevant regulatory variation beyond static eQTL mapping. - Source: PubMed
Publication date: 2026/09/14
Liu Yijia ChristianaCuomo Anna S EHuang YiPerez-Schindler JoaquinMin BellisDatta SanchariNambrath NiveditaHu LinfengNam KisungKanai MasahiroXue AngliXavier Ramnik JDaly Mark JMacArthur Daniel GPowell Joseph EClaussnitzer MelinaNeale Benjamin MZhou Wei - Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na,K-ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function. The present review aimed to systematically identify and organize published data on Na,K-ATPase variants reported in human studies with neurological outcomes, compiling this information into a structured format. Variants in the ATP1A1 (α1) gene are associated with epilepsy, developmental delay, autism spectrum disorder, and Charcot-Marie-Tooth disease (CMT). Variants in the ATP1A2 (α2) gene are mainly associated with familial hemiplegic migraine type 2 (FHM2) and sporadic hemiplegic migraine (SHM), and epilepsy. Moreover, severe neurodevelopmental phenotypes such as polymicrogyria and microcephaly arise from biallelic ATP1A2 loss-of-function variants. ATP1A3 (α3) variants present the broadest phenotypic diversity, including alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, childhood-onset schizophrenia, and cerebellar ataxia, areflexia, pes cavus, optic nerve atrophy, and sensorineural deafness (CAPOS) syndrome. Furthermore, the Gly41Arg variant in the FXYD2 gene is implicated in isolated dominant hypomagnesemia (IDH) with possible neurological manifestations. The structured compilation presented here consolidates data from 61 studies and covers 123 distinct variants across four Na,K-ATPase subunits, providing an annotated reference that may help future research. - Source: PubMed
Publication date: 2026/09/21
da Rosa Giovana KummerRibeiro Leandro RodrigoBariviera Jéssica LorenaOliveira Mauro Schneider - ATP1A3 variants are responsible for rare neurological conditions such as Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP), and Cerebellar Ataxia Areflexia Pes Cavus Optic Atrophy and Sensorineural Hearing Loss (CAPOS). Intermediate phenotypes include Relapsing Encephalopathy with Cerebellar Ataxia (RECA) and Fever-induced Proximal Weakness and Encephalopathy (FIPWE). Acute encephalopathy as a clinical presentation is unusual. We describe three patients with ATP1A3 variants who presented with initial acute encephalopathy, an unusual presentation, to draw clinicians' attention to this lesser-known clinical presentation. - Source: PubMed
Publication date: 2026/09/19
Glasson CapucineGibaud MarcAlesandrini MarieLebricquir FlorianeAltenburger LucileNizon Mathildede Lattre CapucineLetellier GuyBarth MagalieHully MarieAubart MélodieVan Bogaert Patrick - - Source: PubMed
Publication date: 2026/09/11
Martina S Sonia RosalindKanagaraj Jered LivingstonElango NeerajCornelius Leema Pauline