Disease relevance of ATP1A3

• Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism [1].
• The gene coding for a Na+,K+-ATPase alpha subunit (ATP1A3) has been localized to the q12----q13.2 region of human chromosome 19, potentially close to the myotonic dystrophy (DM) gene [2].
• Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism [1].

Psychiatry related information on ATP1A3

• Evidence for an allelic association between bipolar disorder and a Na+, K+ adenosine triphosphatase alpha subunit gene (ATP1A3) [3].
• Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish [4].

High impact information on ATP1A3

• We report the finding of six missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) in seven unrelated families with RDP [1].
• A dinucleotide repeat polymorphism in the human Na+,K+ ATPase, alpha subunit (ATP1A3) gene [5].
• Very recently, mutations in the ATP1A3 gene at the DYT12 locus have been demonstrated in seven unrelated patients, including the three previously linked families [6].
• The alpha 3 gene, which is expressed primarily in neural tissues (ATP1A3), was assigned to human chromosome 19 [7].
• Examination of multiply informative pedigrees indicates the gene order DM-APOC2-ATP1A3 [2].

Biological context of ATP1A3

• Fluorescence in situ hybridization with gene-specific cosmid clones localized ATP4A to the q13.1 region, and proximal to ATP1A3, which maps to the q13.2 region, of Chr 19 [8].
• These results indicate that ATP4A and ATP1A3 are linked in both the mouse and human genomes [8].
• Multilocus linkage analysis supports the existence of a gene in 40%-65% of families with predominantly late-onset illness (after age 65) on chromosome 19 between D19S13 and ATP1A3 [9].

Associations of ATP1A3 with chemical compounds

• OBJECTIVE: To isolate a homogeneous polysaccharide RP from RDP (a crude polysaccharide from Dioscorea opposita Thunb.), and study its preliminary com-position and structure [10].

References