Below is a summary for the ACTL6B gene observed in research publications. This is not meant to take the place of medical advice.
What is ACTL6B-related syndrome?
ACTL6B-related syndrome happens when there are changes in the ACTL6B gene. These changes can keep the gene from working as it should.
The ACTL6B protein plays an important role in the transport of a cell’s components within the cell, and in inactivating DNA.
Because the ACTL6B gene is important for cells in the brain, many people may have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Speech difficulty, or inability to speak
- Issues with walking, or inability to walk
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have ACTL6B-related syndrome look different?
People who have ACTL6B-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Smaller than average head
- Wide-set eyes
- Small, round nose
- Wide mouth
How many people have ACTL6B-related syndrome?
Genetic changes in ACTL6B are very rare. As of 2019, about 22 people in the world with changes in the ACTL6B gene have been described in medical research.
Research Article Summaries