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SMARCE1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SMARCE1 gene

The SMARCE1 gene provides instructions for a protein subunit involved in chromatin remodeling, which is essential for regulating gene activity and cell development.

Normal Function

The SMARCE1 gene provides instructions for making a protein that serves as a subunit of several SWI/SNF protein complexes. These complexes regulate gene activity through chromatin remodeling, the process of changing the structure of chromatin to alter how tightly DNA is packaged. By controlling the accessibility of DNA, these complexes are involved in critical cellular processes, including:

  • Repairing damaged DNA
  • Copying (replicating) DNA
  • Controlling the growth, division, and maturation (differentiation) of cells

Health Conditions Related to Genetic Changes

Coffin-Siris syndrome

Variants in the SMARCE1 gene have been identified as a cause of Coffin-Siris syndrome. This condition is characterized by:

  • Delayed development
  • Abnormalities of the fifth (pinky) fingers or toes
  • Characteristic coarse facial features

Most variants associated with this syndrome change single amino acids in the SMARCE1 protein. Researchers suggest these variants result in abnormal chromatin remodeling, which disrupts the activity of many genes and interferes with various cellular processes.

Other Names for This Gene

  • BAF57
  • BRG1-associated factor 57
  • Chromatin remodeling complex BRG1-associated factor 57
  • SMCE1_HUMAN
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

Genomic Location

The SMARCE1 gene is found on chromosome 17.

Frequently Asked Questions

SMARCE1 encodes a subunit of SWI/SNF chromatin‑remodeling complexes that regulate gene expression during development. Mutations that alter a single amino acid can disrupt the complex’s ability to remodel chromatin, leading to misexpression of genes critical for limb, facial, and neural development. This results in the typical coarse facial features, fifth‑digit abnormalities, and developmental delays seen in Coffin‑Siris syndrome.
Parents should track gross motor milestones (rolling, sitting, walking), fine motor skills (grasping, drawing), speech and language development, and social interaction. Delays are common, so early intervention services (physical therapy, occupational therapy, speech therapy) should be considered if milestones are not reached by the age of 12–18 months for gross motor, 18–24 months for fine motor, and 24–30 months for speech. Early therapy can improve functional outcomes.
While no targeted drug therapy exists, a multidisciplinary approach is effective. Growth hormone therapy may be considered if growth hormone deficiency is confirmed. Regular developmental assessments, individualized education plans, and supportive therapies (speech, occupational, physical) are recommended. Nutritional support and monitoring for feeding difficulties are also important. Early, consistent intervention can maximize developmental potential.
Testing usually involves next‑generation sequencing (NGS) of the SMARCE1 gene, often as part of a larger panel for developmental disorders. A single‑gene test is also available. The diagnostic yield for SMARCE1 in clinically suspected Coffin‑Siris syndrome is approximately 10–20 %, depending on the cohort. If a pathogenic variant is found, confirmatory testing of parents can determine whether it is inherited or de novo.===
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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