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
RS782259548 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782312004 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS782424595 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS782453913 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases, Dystonia 12
RS782499746 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782539594 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS782583311 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Inborn genetic diseases
RS782744167 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2
RS782749835 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS782819736 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS879984755 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS886054473 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS886054474 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS886054476 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS950336124 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS1057516032 Health Risk Likely pathogenic ATP1A3-associated neurological disorder, ATP1A3-associated neurological disorder
RS1057522886 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS1064797245 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Alternating hemiplegia of childhood 2
RS1085307992 Health Risk Likely pathogenic —
RS1131691307 Health Risk Likely pathogenic Dystonia 12, Dystonia 12, Dystonia 12
RS1131691940 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1135401821 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Intellectual disability, Developmental and epileptic encephalopathy 99
RS1555859593 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1599705281 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS1599706511 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599706613 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599712456 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599712523 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599715325 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1599715341 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599719130 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1599719527 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1599719534 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2075058462 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2075237136 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS2075237416 Health Risk Likely pathogenic ATP1A3-associated neurological disorder, ATP1A3-associated neurological disorder
RS2075276177 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2075284959 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2145942372 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145944794 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145945797 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2145945887 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145948130 Health Risk Likely pathogenic —
RS2145959709 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145965854 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145972442 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145972624 Health Risk Likely pathogenic —
RS2145983235 Health Risk Likely pathogenic Undetermined early-onset epileptic encephalopathy, Undetermined early-onset epileptic encephalopathy
RS2514023621 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2514028081 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
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