TUBA1A Chromosome 12
Tubulin alpha 1a
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What This Gene Does
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Tubulin alpha family
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000167552
Associated Conditions (37)
Tubulinopathy
Lissencephaly due to TUBA1A mutation
Inborn genetic diseases
Lissencephaly
Lissencephaly type 3
TUBA1A-related disorder
Tubulinopathy-associated dysgyria
Intellectual disability
Congenital fibrosis of extraocular muscles
Congenital bilateral perisylvian syndrome
Lissencephaly due to LIS1 mutation
TUBA1A-associated tubulinopathy
Continuous spike and waves during slow sleep
Early myoclonic encephalopathy
Movement disorder
Cerebellar vermis hypoplasia
Corpus callosum
agenesis of
Congenital cerebellar hypoplasia
Abnormal cerebral morphology
+17 more conditions
Key Variants
RS1065671
Conflicting classifications of pathogenicity
Health Risk
RS1131691318
Conflicting classifications of pathogenicity
Tubulinopathy, Tubulinopathy
Health Risk
RS137853043
Conflicting classifications of pathogenicity
Lissencephaly due to TUBA1A mutation, Inborn genetic diseases, Tubulinopathy
Health Risk
RS1555162242
Conflicting classifications of pathogenicity
Lissencephaly due to TUBA1A mutation, Tubulinopathy, Lissencephaly due to TUBA1A mutation
Health Risk
RS1555162301
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555162335
Conflicting classifications of pathogenicity
Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
Health Risk
RS1555162549
Conflicting classifications of pathogenicity
Tubulinopathy, Lissencephaly due to TUBA1A mutation, Tubulinopathy
Health Risk
RS1565627084
Conflicting classifications of pathogenicity
TUBA1A-related disorder, Lissencephaly due to TUBA1A mutation, TUBA1A-related disorder
Health Risk
RS1565627304
Conflicting classifications of pathogenicity
Tubulinopathy, Lissencephaly due to TUBA1A mutation, Tubulinopathy-associated dysgyria
Health Risk
RS1565627339
Conflicting classifications of pathogenicity
Tubulinopathy, Lissencephaly due to TUBA1A mutation, Tubulinopathy
Health Risk
RS1565627795
Conflicting classifications of pathogenicity
Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
Health Risk
RS1942164218
Conflicting classifications of pathogenicity
Congenital fibrosis of extraocular muscles, Congenital bilateral perisylvian syndrome, Congenital fibrosis of extraocular muscles
Health Risk
All Variants (186)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1565627513 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1565627707 | Health Risk | Likely pathogenic | Cerebellar vermis hypoplasia, Lissencephaly due to TUBA1A mutation, Corpus callosum |
| RS1565627777 | Health Risk | Likely pathogenic | Tubulinopathy, Lissencephaly due to TUBA1A mutation, Tubulinopathy |
| RS1592259391 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1592260393 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1942164890 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Abnormal cerebral morphology, Lissencephaly due to TUBA1A mutation |
| RS1942166073 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1942171146 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1942172546 | Health Risk | Likely pathogenic | — |
| RS1942172759 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS1942187200 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121241333 | Health Risk | Likely pathogenic | — |
| RS2121242769 | Health Risk | Likely pathogenic | — |
| RS2121243281 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS2121243396 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121243526 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS2121244201 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121244334 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121244360 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2121244643 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121244807 | Health Risk | Likely pathogenic | — |
| RS2121244979 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121246535 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS2121247899 | Health Risk | Likely pathogenic | — |
| RS2121248103 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2121248621 | Health Risk | Likely pathogenic | — |
| RS2121256921 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2498858790 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2498859541 | Health Risk | Likely pathogenic | — |
| RS2498859689 | Health Risk | Likely pathogenic | TUBA1A-related disorder, TUBA1A-related disorder |
| RS2498860043 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2498860114 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2498860323 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2498860632 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2498860754 | Health Risk | Likely pathogenic | Tubulinopathy, Tubulinopathy |
| RS2498860775 | Health Risk | Likely pathogenic | Tubulinopathy, Tubulinopathy |
| RS2498861285 | Health Risk | Likely pathogenic | — |
| RS2498862501 | Health Risk | Likely pathogenic | — |
| RS2498863253 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS2498863339 | Health Risk | Likely pathogenic | TUBA1A-related disorder, TUBA1A-related disorder |
| RS2498863514 | Health Risk | Likely pathogenic | — |
| RS2498863626 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation |
| RS387906840 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Tubulinopathy, Lissencephaly due to TUBA1A mutation |
| RS587784481 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Tubulinopathy, Lissencephaly due to TUBA1A mutation |
| RS587784483 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Autosomal recessive limb-girdle muscular dystrophy type 2D, Tubulinopathy |
| RS587784485 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Tubulinopathy, Lissencephaly due to TUBA1A mutation |
| RS587784486 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Tubulinopathy, Lissencephaly due to TUBA1A mutation |
| RS587784492 | Health Risk | Likely pathogenic | Lissencephaly due to TUBA1A mutation, Tubulinopathy, Lissencephaly due to TUBA1A mutation |
| RS587784493 | Health Risk | Likely pathogenic | — |
| RS786205479 | Health Risk | Likely pathogenic | Tubulinopathy, Tubulinopathy |