ATP1A3 Chromosome 19

ATPase Na+/K+ transporting subunit alpha 3
187 variants 187 Health Risk

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What This Gene Does
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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
ATPase Na+/K+ transporting subunits
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105409
Associated Conditions (31)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
Developmental and epileptic encephalopathy 99
ATP1A3-related disorder
Inborn genetic diseases
Neurodevelopmental delay
ATP1A3-associated neurological disorder
Seizure
Intellectual disability
Epileptic encephalopathy
Undetermined early-onset epileptic encephalopathy
Alternating hemiplegia of childhood
Tetraparesis
Dystonic disorder
Oculogyric crisis
Seizures
benign familial neonatal
1
Global developmental delay
+11 more conditions
Key Variants
RS1064795403
Conflicting classifications of pathogenicity
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Alternating hemiplegia of childhood 2
Health Risk
RS1085307933
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS1131691436
Conflicting classifications of pathogenicity
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Developmental and epileptic encephalopathy 99
Health Risk
RS1131691813
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS1353417724
Conflicting classifications of pathogenicity
Alternating hemiplegia of childhood 2, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Health Risk
RS141362710
Conflicting classifications of pathogenicity
Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
Health Risk
RS1439299124
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS145179304
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS149600313
Conflicting classifications of pathogenicity
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99
Health Risk
RS150785666
Conflicting classifications of pathogenicity
Dystonia 12, Alternating hemiplegia of childhood 2, Inborn genetic diseases
Health Risk
RS1555859150
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
RS1555860861
Conflicting classifications of pathogenicity
Dystonia 12, Dystonia 12
Health Risk
All Variants (187)
RSID Category Clinical Significance Conditions
RS1064795403 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Alternating hemiplegia of childhood 2
RS1085307933 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1131691436 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Developmental and epileptic encephalopathy 99
RS1131691813 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1353417724 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS141362710 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS1439299124 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS145179304 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS149600313 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99
RS150785666 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Inborn genetic diseases
RS1555859150 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1555860861 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1555861946 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases, Dystonia 12
RS1555862098 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1555866356 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599705282 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599715062 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599723609 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1599726017 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS200582951 Health Risk Conflicting classifications of pathogenicity Dystonia 12, ATP1A3-related disorder, Dystonia 12
RS200891944 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dystonia 12, Inborn genetic diseases
RS201391210 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, ATP1A3-related disorder
RS201573515 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Developmental and epileptic encephalopathy 99, Inborn genetic diseases
RS2075158829 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS2075190697 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS2075199553 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases, Dystonia 12
RS2075282510 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases, Dystonia 12
RS2145941195 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS2145977694 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS2514032524 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Neurodevelopmental delay, Dystonia 12
RS2514047010 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS2514075292 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 99, Inborn genetic diseases, Developmental and epileptic encephalopathy 99
RS34578730 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS368371895 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS370436157 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS374826826 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Alternating hemiplegia of childhood 2
RS377256877 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS554237072 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases, Dystonia 12
RS606231440 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS606231447 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12, Dystonia 12
RS781828729 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS781886157 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS781928217 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782057287 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782082118 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS782105093 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782123500 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782140994 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS782227665 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases, Dystonia 12
RS782229302 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Inborn genetic diseases
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