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GPR101 gene

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

GPR101 gene

The GPR101 gene provides instructions for a G protein-coupled receptor primarily expressed in the pituitary gland, where it is involved in growth regulation.

Normal Function

The GPR101 gene provides instructions for making a G protein-coupled receptor. These proteins are embedded in cell membranes and relay chemical signals from outside the cell to the interior. While the specific function of the GPR101 protein is not fully understood, it is found primarily in the brain, specifically in the pituitary gland. This gland produces hormones, including growth hormone, which directs the growth of bones and tissues. GPR101 is expressed in the pituitary gland during prenatal development and adolescence, suggesting it plays a role in cell growth within the gland or the release of growth hormone.

Health Conditions Related to Genetic Changes

X-linked acrogigantism

X-linked acrogigantism (X-LAG) is caused by a duplication of genetic material on the X chromosome (specifically at location q26.3) that includes the GPR101 gene. This duplication leads to an excess of GPR101 protein. The condition is characterized by abnormally fast growth beginning in infancy or early childhood, resulting from the enlargement of the pituitary gland or the development of a noncancerous tumor (pituitary adenoma), which causes the release of excess growth hormone.

Other disorders

A variation in the GPR101 gene (Glu308Asp or E308D) has been identified in a small percentage of people with sporadic acromegaly, a condition in adulthood characterized by the overgrowth of hands and feet and coarse facial features. While some laboratory studies suggest this variant may increase growth hormone release and cell proliferation, other studies have been unable to replicate these findings, suggesting this genetic change may not be a primary driver of the condition.

Other Names for This Gene

  • GPCR6
  • PAGH2

Frequently Asked Questions

X-linked acrogigantism is caused by a duplication of the GPR101 gene on the X chromosome. Since males have only one X chromosome, they are more severely affected and typically develop the condition. Females have two X chromosomes, so they may be carriers or have milder symptoms. A mother who carries the duplication has a 50 percent chance of passing the affected X chromosome to her sons, who will then develop the condition, and a 50 percent chance of passing it to her daughters, who may become carriers or affected.
Early signs often include rapid, abnormal growth in height and weight during infancy, which may be noticed as the child significantly outgrowing clothes and peers. Other early indicators can include large hands and feet, coarse facial features, and sometimes headaches or vision changes due to the enlargement of the pituitary gland. Parents should consult a pediatric endocrinologist if they notice these growth patterns, as early intervention can help manage hormone levels.
The duplication leads to an overproduction of the GPR101 protein, which stimulates the pituitary gland to grow larger or develop a noncancerous tumor called a pituitary adenoma. This enlargement causes the gland to release excessive amounts of growth hormone (GH). The excess GH drives the rapid growth of bones and tissues, leading to the characteristic features of acrogigantism. The pituitary gland may also press on nearby structures, such as the optic nerves, causing vision problems.
The role of the Glu308Asp (E308D) variant in sporadic acromegaly is currently debated. While some studies suggest this variant may increase growth hormone release and cell proliferation, other research has failed to replicate these findings. Consequently, it is not yet considered a definitive cause of the disease. Clinicians typically diagnose acromegaly based on clinical symptoms and hormone levels rather than solely on this genetic variant, and further research is needed to clarify its exact contribution.
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.