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LHX1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LHX1 gene

The LHX1 gene encodes a transcription factor that regulates gene activity and is critical for the development of the brain and the female reproductive system.

Normal Function

The LHX1 gene provides instructions for making a protein that attaches to specific regions of DNA to regulate the activity of other genes. Because of this role, the protein is classified as a transcription factor. It belongs to a group of transcription factors known as homeodomain proteins, which use a specific region called the homeodomain to bind to DNA. The LHX1 protein is found in many organs and tissues, playing particularly important roles in the development of the brain and the female reproductive system.

Health Conditions Related to Genetic Changes

17q12 deletion syndrome

17q12 deletion syndrome results from the deletion of a small piece of chromosome 17. This region contains 15 genes, including LHX1. A deletion results in the loss of one copy of the LHX1 gene, leading to a reduced amount of LHX1 protein. This shortage disrupts the regulation of genes necessary for normal organ development.

Signs and symptoms of 17q12 deletion syndrome include:

  • Abnormalities of the kidneys and urinary tract
  • Maturity-onset diabetes of the young type 5 (MODY5)
  • Delayed development and intellectual disability
  • Behavioral or psychiatric disorders
  • Mayer-Rokitansky-Küster-Hauser syndrome (in some females, characterized by underdevelopment or absence of the vagina and uterus)

Other Names for This Gene

  • homeobox protein Lim-1
  • LIM homeobox protein 1
  • LIM-1
  • LIM/homeobox protein Lhx1
  • LIM1

Frequently Asked Questions

Most cases of 17q12 deletion syndrome occur as a new (de novo) mutation, meaning it is not inherited from a parent. However, in a small percentage of cases, a parent may carry a balanced translocation or a very small deletion that does not cause symptoms in them but can be passed to a child. If a parent has a confirmed deletion, the risk of passing it to each child is 50%. Genetic counseling is recommended for families with a history of the syndrome to assess recurrence risks and discuss testing options.
The LHX1 gene is also critical for the development and function of the pancreas, specifically the beta cells that produce insulin. A reduction in LHX1 protein can impair the maturation of these cells, leading to a condition known as Maturity-Onset Diabetes of the Young type 5 (MODY5). This type of diabetes typically presents in childhood or adolescence and may require insulin therapy. Regular blood glucose monitoring is important for individuals with 17q12 deletion syndrome to detect and manage this potential complication early.
While intellectual disability and developmental delays are common in 17q12 deletion syndrome, behavioral challenges are also a significant component. Individuals may exhibit anxiety, attention-deficit/hyperactivity disorder (ADHD) traits, or autism spectrum disorder features. The specific impact of LHX1 loss on brain development contributes to these neurodevelopmental outcomes. Early intervention services, including speech therapy and behavioral support, are crucial for improving quality of life and managing these symptoms effectively.
The LHX1 protein acts as a transcription factor, meaning it turns other genes on or off to guide organ development. In the kidneys, LHX1 is essential for the proper formation of the collecting ducts and overall structural integrity. When one copy of the gene is lost due to a 17q12 deletion, the reduced level of LHX1 protein disrupts this regulatory process. This can lead to structural defects such as renal agenesis (absence of a kidney), hypoplasia (underdevelopment), or reflux, which are common findings in individuals with this syndrome.
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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