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SAMD9L gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SAMD9L gene

The SAMD9L gene acts as a tumor suppressor, regulating cell growth and division throughout the body, particularly in bone marrow and the brain.

Normal Function

The SAMD9L gene provides instructions for a protein involved in the proliferation and maturation of cells, especially those in the bone marrow that give rise to blood cells. By acting as a tumor suppressor, the SAMD9L protein prevents cells from growing or dividing in an uncontrolled manner. It also plays a role in the cerebellum, the part of the brain that coordinates movement.

Health Conditions Related to Genetic Changes

Ataxia-pancytopenia syndrome

Inherited "gain-of-function" mutations in the SAMD9L gene cause this rare condition, which affects the cerebellum and bone marrow. These mutations increase the protein's ability to block cell growth, leading to a shortage of blood cells (pancytopenia) and neurological issues like ataxia.

Paradoxically, these mutations increase the risk of blood cancers like myelodysplastic syndrome and acute myeloid leukemia. Affected individuals may develop secondary genetic changes—such as "loss-of-function" mutations or deletions of chromosome 7—that compensate for the overactive SAMD9L protein. While these secondary changes reduce the severity of pancytopenia, they can also allow cells to grow uncontrollably, leading to cancer.

Cancers

Somatic "loss-of-function" mutations in the SAMD9L gene have been identified in hepatocellular carcinoma (a form of liver cancer). These acquired mutations disable the gene, preventing the protein from effectively regulating cell proliferation, which allows liver cells to divide without control.

Genomic Location

The SAMD9L gene is found on chromosome 7.

Frequently Asked Questions

Individuals with inherited SAMD9L mutations require close, lifelong monitoring due to the increased risk of blood cancers. This typically involves regular blood counts to check for changes in cell levels, bone marrow biopsies, and genetic testing of bone marrow cells to detect secondary mutations. The frequency of monitoring is determined by a hematologist based on the individual's specific condition and risk factors.
Management of Ataxia-pancytopenia syndrome is supportive and symptom-based. For pancytopenia, treatments may include blood transfusions, growth factors to stimulate blood cell production, or in some cases, stem cell transplantation. For ataxia, physical therapy, occupational therapy, and assistive devices can help manage coordination and balance issues. Treatment for any developing blood cancer (MDS or AML) would follow standard oncology protocols.
taxia-pancytopenia syndrome is characterized by two primary sets of symptoms: neurological issues, particularly ataxia (problems with coordination and balance due to cerebellar dysfunction), and pancytopenia, which is a shortage of all types of blood cells (red, white, and platelets). These symptoms arise from inherited "gain-of-function" mutations in the SAMD9L gene, which cause the protein to excessively block cell growth, particularly in the bone marrow and brain.
This is a paradoxical effect. The inherited "gain-of-function" SAMD9L mutation initially causes the protein to overactively suppress cell growth, leading to pancytopenia. However, cells in the bone marrow can develop secondary "loss-of-function" mutations or deletions in the SAMD9L gene or surrounding chromosome 7. These secondary changes compensate for the overactive SAMD9L, reducing pancytopenia, but they also disable the tumor suppressor function, allowing these cells to grow uncontrollably and potentially develop into myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).
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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