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SALL1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SALL1 gene

The SALL1 gene provides instructions for creating proteins essential for the development of various tissues and organs before birth.

Normal Function

The SALL1 gene is part of a group of related genes that provide instructions for making proteins involved in the formation of tissues and organs before birth. These proteins are transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes.

The SALL1 protein helps turn off (repress) gene activity by interacting with other proteins that alter how tightly regions of DNA are packaged. This process, known as chromatin remodeling, is one way gene expression is regulated during development; typically, when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. By controlling gene activity, the SALL1 protein plays an important role in the development of the hands (particularly the thumbs), ears, anus, kidneys, and other parts of the body before birth.

Health Conditions Related to Genetic Changes

Townes-Brocks Syndrome

At least 75 mutations in the SALL1 gene have been identified in people with Townes-Brocks syndrome, which is typically characterized by a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations.

  • Protein Malfunction: Most mutations lead to the production of an abnormally short version of the SALL1 protein. This malfunctioning protein interferes with normal copies of the protein, preventing them from entering the cell nucleus to regulate gene activity.
  • Cilia Disruption: Research indicates that the abnormally short SALL1 protein may interfere with proteins that control the formation of cilia—microscopic, finger-like projections on the surface of cells that participate in signaling pathways. Abnormalities in cilia can disrupt chemical signaling during development.
  • Reduced Protein Levels: Less-common mutations prevent the gene from making protein, reducing the amount of SALL1 by half. Some studies suggest these mutations may lead to milder cases, though findings vary.

Other Related Conditions

Changes in the SALL1 gene are also associated with:

  • Anophthalmia/Microphthalmia
  • Coloboma
  • Congenital anomalies of kidney and urinary tract

Genomic Location

The SALL1 gene is found on chromosome 16.

Frequently Asked Questions

truncating mutation creates a shortened protein that can interfere with normal SALL1 function (a dominant‑negative effect). This often leads to the classic features of Townes‑Brocks—hand, ear, anal, and kidney anomalies—but the severity varies. Early surgical correction of structural problems and vigilant monitoring of kidney function usually improve long‑term outcomes.
Yes, individuals with a SALL1 mutation can have children, but each offspring has a 50 % chance of inheriting the variant. Prenatal testing (chorionic villus sampling or amniocentesis) can detect the specific familial mutation, and pre‑implantation genetic diagnosis is an option for couples using IVF. Genetic counseling helps families understand the variability in expression and plan accordingly.
multidisciplinary team is ideal: a pediatric nephrologist for kidney monitoring, a pediatric surgeon or urologist for any anal or urinary tract anomalies, an orthopedic surgeon for hand/thumb malformations, an otolaryngologist for ear issues, and a clinical geneticist for counseling and family testing. Regular developmental assessments and audiology evaluations are also recommended.
Kidney ultrasound should be performed at diagnosis and then repeated every 1–2 years, or sooner if urinary symptoms develop. Blood pressure, serum creatinine, and urinalysis are also checked annually to catch early signs of renal impairment. Prompt referral to a nephrologist is advised if cysts enlarge or kidney function declines.
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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