Details of SPR gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SPR | --- | P35270 | SPRE_HUMAN | 6697
| Q53GI9
| Q9UBB1 | Dystonia |
Phenotypes
"Abnormal aggressive, Abnormal axial skeleton morphology, Abnormal emotion/affect behavior, Abnormal muscle tone, Abnormality of amino acid metabolism, Abnormality of aromatic amino acid family metabolism, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of eye movement, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of phenylalanine metabolism, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the head, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Age of onset, Aggressive behavior, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Apraxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Chorea, Choreoathetosis, Cognitive impairment, Dysarthria, Dystonia, Global developmental delay, Growth abnormality, Growth delay, Hyperactivity, Hypertonia, Infantile onset, Intellectual disability, Involuntary movements, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Muscular hypotonia of the trunk, Neurological speech impairment, Oculomotor apraxia, Onset, Onset and clinical course, Phenotypic abnormality, Seizures, Sleep disturbance, Spasticity, Transient hyperphenylalaninemia, Tremor.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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