Meyahealth
HomeGeneticsGeneTUBA1A gene
Back to Gene
TUBA1A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TUBA1A gene

The TUBA1A gene provides instructions for making alpha-tubulin, a protein essential for forming microtubules that support cell structure and brain development.

Normal Function

The TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family, which forms and organizes microtubules—rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are necessary for cell division and movement.

While most cells produce α-tubulin, it is found in the highest amounts in the developing brain. During development, α-tubulin partners with beta-tubulin to form microtubules that move nerve cells (neurons) to their proper locations, a process known as neuronal migration.

Health Conditions Related to Genetic Changes

Isolated lissencephaly sequence

Mutations in the TUBA1A gene can cause isolated lissencephaly sequence (ILS). This condition involves abnormal brain development where the brain appears smooth (lissencephaly) rather than having its normal folds and grooves. This results in severe neurological problems, including intellectual disability and recurrent seizures (epilepsy). These mutations reduce microtubule function, which impairs the migration of neurons during brain development.

Lissencephaly with cerebellar hypoplasia

Mutations in the TUBA1A gene are also linked to lissencephaly with cerebellar hypoplasia (LCH). This condition causes lissencephaly and an unusually small, underdeveloped cerebellum. Research suggests that while the altered α-tubulin proteins can still be incorporated into microtubules, the resulting microtubules have decreased or abnormal function, leading to intellectual disability, developmental delays, and movement problems.

Other Names for This Gene

  • B-ALPHA-1
  • TBA1A_HUMAN
  • TUBA3
  • tubulin alpha-1A chain
  • tubulin alpha-3 chain
  • tubulin B-alpha-1
  • tubulin, alpha 1a
  • tubulin, alpha, brain-specific

Frequently Asked Questions

If genetic testing of both parents shows no TUBA1A variant, the mutation is considered de novo, giving a low (<1 %) recurrence risk. However, germline mosaicism can raise the risk slightly, so prenatal testing (CVS or amniocentesis) or pre‑implantation genetic testing can be offered in future pregnancies.
Start a multidisciplinary program within the first months: daily physical therapy to promote motor milestones, occupational therapy for fine‑motor skills, speech‑language therapy for feeding and communication, and early intervention special‑education services. Regular neuro‑developmental evaluations guide adjustments to therapy intensity.
You’ll likely have serial brain MRI scans (every 6–12 months) to track cortical thickness and cerebellar size. An EEG is performed at diagnosis and repeated if seizures occur or change. Routine developmental assessments, vision and hearing screens, and cardiac echo (rarely) are also part of surveillance.
There is no disease‑modifying drug, but aggressive seizure control (antiepileptic drugs, possible ketogenic diet) and early neuro‑rehabilitation (physical, occupational, speech therapy) improve functional outcomes. Some centers trial experimental neuroprotective agents, but these remain investigational.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ