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SMARCAL1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SMARCAL1 gene

The SMARCAL1 gene produces a protein that repairs DNA damage during replication, helping to maintain genomic integrity.

Normal Function

The SMARCAL1 gene provides instructions for producing a protein that interacts with DNA. When the process of making new copies of DNA (DNA replication) is blocked by damage, the SMARCAL1 protein helps repair the damage by reattaching the two strands of the DNA double helix, allowing replication to proceed.

The SMARCAL1 protein is also thought to influence the activity of other genes through chromatin remodeling. By binding to chromatin—the complex of DNA and protein that packages DNA into chromosomes—the protein can alter how tightly DNA is packaged, thereby regulating gene expression during development.

Health Conditions Related to Genetic Changes

Schimke immuno-osseous dysplasia

Variants in the SMARCAL1 gene cause Schimke immuno-osseous dysplasia, a condition characterized by short stature, kidney disease, and a weakened immune system.

  • These variants disrupt the function of the SMARCAL1 protein or prevent the production of any functional protein.
  • The resulting inability to repair DNA damage leads to stalled DNA replication and a buildup of damage, which contributes to the skeletal and immune system problems associated with the disorder.
  • Individuals with no functional SMARCAL1 protein typically experience a more severe form of the condition than those with malfunctioning proteins.

Other Names for This Gene

  • HARP
  • HepA-related protein
  • HHARP
  • SMAL1_HUMAN

Genomic Location

The SMARCAL1 gene is found on chromosome 2.

Frequently Asked Questions

SIOD is characterized by a combination of short stature due to skeletal abnormalities, progressive kidney disease that can lead to kidney failure, and a weakened immune system (immunodeficiency) making individuals prone to infections. Other features can include neurological problems and distinctive facial features.
Management of SIOD is supportive and multidisciplinary, focusing on each symptom. This can include growth hormone therapy for short stature, medications to manage kidney disease, dialysis or kidney transplantation for kidney failure, and treatments for immune deficiencies such as immunoglobulin replacement or bone marrow transplantation to improve immune function.
Yes, the severity of SIOD can vary significantly. Individuals who have no functional SMARCAL1 protein at all typically experience a more severe form of the condition with earlier onset and more rapid progression of symptoms. Those with mutations that
The SMARCAL1 protein is crucial for repairing DNA damage during cell replication and for regulating gene expression. When the gene is mutated, this DNA repair mechanism is impaired, leading to a buildup of DNA damage. This cellular stress and damage particularly affect rapidly dividing cells, such as those in the kidneys and immune system, contributing to their dysfunction and the diverse symptoms of SIOD.
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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