SMARCE1
SWI/SNF related BAF chromatin remodeling complex subunit E1
Normal Function
Health Conditions Related to Genetic Changes
Coffin-Siris syndrome
At least five variants (also known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. Most SMARCE1 gene variants involved in Coffin-Siris syndrome change single protein building blocks (amino acids) in the SMARCE1 protein. Although it is unclear how these changes affect SWI/SNF complexes, researchers suggest that the variants result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.
More About This Health ConditionRelated Conditions
Coffin-Siris syndrome
Health Conditions Related to Genetic Changes
At least five variants (also known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. Most SMARCE1 gene variants involved in Coffin-Siris syndrome change single protein building blocks (amino acids) in the SMARCE1 protein. Although it is unclear how these changes affect SWI/SNF complexes, researchers suggest that the variants result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.