2008年2月7日 · ATP1A3 -related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of …

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene. [5][6] The protein encoded by this gene belongs to the family of P-type …

2024年12月5日 · Clinical characteristics: ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined …

2024年12月24日 · ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3) is a Protein Coding gene. Diseases associated with ATP1A3 include Dystonia 12 and Cerebellar Ataxia, Areflexia, …

The ATP1A3 gene provides instructions for making one part (the alpha-3 subunit) of a protein known as Na+/K+ ATPase or the sodium pump. This protein uses energy from a molecule …

We describe the phenotypic features of individuals carrying a pathogenic/likely pathogenic ATP1A3 variant and perform a literature review of all ATP1A3 variants published thus far in …

ATP1A3 contains 23 exons and 22 introns, and encodes a protein of 1013 amino acids, consisting of the α3 subunit of Na + /K + -ATPase, which is located on chromosome 19q13.2 and is …

2025年2月8日 · ATP1A3 is the major pathogenic gene of AHC in Chinese patients. Impaired cognitive function may be a manifestation of ATP1A3 mutation and Rapid-onset dystonia …

2025年2月8日 · Clinical resource with information about ATP1A3, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss …

The ATP1A3 gene encodes the alpha-3 catalytic subunit of the Na+/K(+)-ATPase transmembrane ion pump. The ATP1A3 isoform is exclusively expressed in neurons of various brain regions, …