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TUBA1A

Synonyms
B-ALPHA-1, LIS3, TUBA3
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
51
Likely pathogenic
1
VUS
912
Likely benign
1,802
Benign
129

Patient phenotypes

Proportions of phenotypes among 52 patients carring pathogenic or likely pathogenic variants on TUBA1A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.2%
Abnormality of the musculoskeletal system
23.1%
Growth abnormality
23.1%
Abnormality of head or neck
21.2%
Abnormality of the cardiovascular system
21.2%
Abnormality of the ear
13.5%
Abnormality of the eye
13.5%
Abnormality of the genitourinary system
13.5%
Abnormality of the endocrine system
9.6%
Abnormality of limbs
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the integument
5.8%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the respiratory system
3.8%
Abnormality of the breast
1.9%
Abnormality of the immune system
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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