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TBC1D24 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TBC1D24 gene

The TBC1D24 gene provides instructions for a protein that plays a role in brain development, cellular transport, and the inner ear's response to sound.

Normal Function

The TBC1D24 gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport) of vesicles, which are small sac-like structures that transport proteins and other materials within cells. Research suggests that the TBC1D24 protein may also help cells respond to oxidative stress, which occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells.

Studies indicate that the TBC1D24 protein is active in a variety of organs and tissues; it is particularly active in the brain and likely plays an important role in normal brain development. The TBC1D24 protein is also active in specialized structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells. The stereocilia bend in response to sound waves, which is critical for converting sound waves to nerve impulses.

Health Conditions Related to Genetic Changes

DOORS syndrome

At least 10 mutations in the TBC1D24 gene have been identified in people with DOORS syndrome, a disorder involving multiple abnormalities present from birth. "DOORS" is an abbreviation for the major features of the disorder:

  • Deafness
  • Onychodystrophy (short or absent nails)
  • Osteodystrophy (short fingers and toes)
  • Retardation (developmental delay and intellectual disability)
  • Seizures

Epilepsy of infancy with migrating focal seizures

TBC1D24 gene mutations have been identified in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of infancy 16). These mutations likely result in impairment of TBC1D24 protein functions related to the development of the brain.

Nonsyndromic hearing loss

MedlinePlus Genetics provides information about Nonsyndromic hearing loss.

Other disorders

TBC1D24 gene mutations have also been identified in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME).

Other Names for This Gene

  • DFNA65
  • KIAA1171
  • skywalker homolog
  • TBC/LysM-associated domain containing 6
  • TBC1 domain family member 24 isoform 1
  • TBC1 domain family member 24 isoform 2
  • TLDC6

Frequently Asked Questions

The hearing loss caused by TBC1D24 gene mutations is often sensorineural, meaning it results from damage to the inner ear. Management typically involves early identification through newborn hearing screening, followed by audiological evaluations. Depending on the severity, interventions may include hearing aids, cochlear implants, and speech therapy to support language development.
Long-term support for developmental delay and intellectual disability involves a comprehensive, individualized approach. This often includes early intervention programs, physical therapy, occupational therapy, speech therapy, and special education services. Behavioral therapy and adaptive strategies can also help individuals achieve their maximum potential and improve their quality of life.
The earliest signs can vary but often include severe seizures that begin in infancy, sometimes described as migrating focal seizures. Other early indicators of DOORS syndrome may involve hearing impairment, abnormalities of the fingernails and toenails (onychodytrophy), and short fingers and toes (osteodystrophy). Developmental delays and feeding difficulties can also be present from a young age.
Seizures associated with TBC1D24 gene mutations, particularly in early-infantile epileptic encephalopathy, can be challenging to treat. Management typically involves various anti-seizure medications, often in combination, to find the most effective regimen. In some cases, dietary therapies like the ketogenic diet or surgical options may be considered if medications are not fully effective.
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.

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