Details of ATP1A3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ATP1A3 | --- | P13637 | AT1A3_HUMAN | 478
| Q969K5
| --- | choreoathetoid move |
Disease |
|---|
| Disease |
OMIM id |
| Dystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions |
often associated with physical or emotional stress |
Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing |
nystagmus |
Phenotypes
Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of central motor function, Abnormality of extrapyramidal motor function, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of salivation, Abnormality of temperature regulation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the esophagus, Abnormality of the face, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the musculature of the neck, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the oral cavity, Adult onset, Age of onset, All, Anxiety, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Bradykinesia, Depression, Drooling, Dysarthria, Dysphagia, Dystonia, Emotional lability, Excessive salivation, Fever, Focal dystonia, Gait disturbance, Hypomimic face, Incomplete penetrance, Juvenile onset, Late onset, Mode of inheritance, Mutism, Neurological speech impairment, Onset, Onset and clinical course, Parkinsonism, Phenotypic abnormality, Phenotypic variability, Postural instability, Spasmodic torticollis, Unsteady gait.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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