Gene: TUBA1A

Alternate names for this Gene: B-ALPHA-1|LIS3|TUBA3

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: tubulin alpha 1a

Type of Gene: protein-coding

rs1555162323 in TUBA1A gene and Dysmorphic features PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

rs137853043 in TUBA1A gene and Lissencephaly 3 PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

rs1555162325 in TUBA1A gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1555162303 in TUBA1A gene and Movement Disorders PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

rs1555162323 in TUBA1A gene and Multiple congenital anomalies PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

rs1057517858 in TUBA1A gene and Muscle hypotonia PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.