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
RS387907282 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS397515382 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS542652468 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Abnormal earlobe morphology, Epicanthus
RS557052809 Health Risk Pathogenic Dystonia 12, Dystonia 12, Dystonia 12
RS557939077 Health Risk Pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS573535377 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS587777771 Health Risk Pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Inborn genetic diseases, Alternating hemiplegia of childhood 2
RS606231432 Health Risk Pathogenic Dystonia 12, Dystonia 12, Dystonia 12
RS606231434 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS606231435 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2, Inborn genetic diseases
RS606231437 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12, Alternating hemiplegia of childhood 2
RS606231441 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12, Dystonia 12
RS606231442 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS782175860 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS80356532 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS80356534 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS80356536 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS869320661 Health Risk Pathogenic Dystonia 12, ATP1A3-related disorder, Dystonia 12
RS886041431 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1064795234 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Dystonia 12
RS1135401822 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS1555859571 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Dystonia 12
RS1555865385 Health Risk Pathogenic/Likely pathogenic Dystonia 12, ATP1A3-associated neurological disorder, Dystonia 12
RS1555865401 Health Risk Pathogenic/Likely pathogenic Juvenile onset psychosis, Dystonia 12, Alternating hemiplegia of childhood 2
RS1599706522 Health Risk Pathogenic/Likely pathogenic Alternating hemiplegia of childhood, ATP1A3-associated neurological disorder, Alternating hemiplegia of childhood
RS1599725621 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Hereditary ataxia, Dystonia 12
RS2075159021 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Developmental and epileptic encephalopathy 99, Dystonia 12
RS2514066639 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS398122887 Health Risk Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 2, Epilepsy, Hemiplegia
RS529241207 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
RS606231443 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Developmental and epileptic encephalopathy 99, Dystonia 12
RS797044897 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS80356533 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Dystonia 12
RS863224847 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS864309572 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS879255368 Health Risk Pathogenic/Likely pathogenic Hemiplegia, Delayed speech and language development, Oculogyric crisis
RS886041396 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Inborn genetic diseases, Developmental and epileptic encephalopathy 99
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