Details of TUBA1A gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| TUBA1A | TUBA3 | Q71U36 | TBA1A_HUMAN | 7846
| P05209
| --- | severe mental retar |
Disease |
|---|
| Disease |
OMIM id |
| Lissencephaly 3 (LIS3) [MIM:611603]: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia |
motor delay |
Phenotypes
"Intellectual disability, Abnormal axial skeleton morphology, Abnormal cortical gyration, Abnormality of central motor function, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of neuronal migration, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the brainstem, Abnormality of the central nervous system, Abnormality of the cerebellar vermis, Abnormality of the cerebellum, Abnormality of the cerebral cortex, Abnormality of the cerebral subcortex, Abnormality of the cerebral ventricles, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the forebrain, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Agenesis of corpus callosum, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the brainstem, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Cerebellar malformation, Cerebellar vermis hypoplasia, Cognitive impairment, Dysplastic corpus callosum, Global developmental delay, Heterotopia, Hypertonia, Hypoplasia of the brainstem, Intellectual disability, Lissencephaly, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Pachygyria, Phenotypic abnormality, Seizures, Spastic tetraplegia, Spasticity, Ventriculomegaly.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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