ACTL6B

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.

Key Role

The ACTL6B protein plays an important role in the transport of a cell’s components within the cell, and in inactivating DNA.

Symptoms

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.

Support Resources

Simons Searchlight Community – ACTL6B Facebook Group

GeneReviews

Gene Reviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There are no GeneReviews for ACTL6B right now.

Research Article Summaries

We currently do not have any articles summaries for ACTL6B, but we add resources to our website as they become available.

The information available about ACTL6B is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for ACTL6B articles can be found here.

You can also visit the Simons Foundation‘s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ACTL6B genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from ACTL6B families:

Mia
Vicky

Click here to share your family’s story!