The SHMT2 gene gives cells instructions for a protein that helps convert the amino acid serine into glycine inside mitochondria, the parts of cells that help make energy. This gene helps your body make DNA building blocks and support normal cell growth and repair. If harmful variants in the SHMT2 gene reduce this protein’s function, cells may struggle to meet energy and growth needs, which can contribute to rare inherited conditions that affect development and the nervous system. SHMT2 is mainly known in medical genetics rather than popular culture.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or regulate processes throughout the body. Some genes provide the directions for producing proteins, which are the parts of cells that do much of the work. Others mainly help decide when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body develops and works, and they can influence your response to food, stress, and medications. For a deeper look at this topic, visit the LearnHub.
Overview
SHMT2Gene function
What if the gene works
The SHMT2 gene helps cells use folate inside mitochondria, the parts of cells that make energy. This supports making DNA and normal cell growth.
Risk
What if the gene does not work
More disruptive variants in the SHMT2 gene can cause a mitochondrial condition with developmental delay, small head size, weakness, and hearing loss. Milder variants may lead to later onset or less marked neurologic features.
Treatment
What does that mean for your treatment
Pathogenic or loss-of-function variants in the SHMT2 gene do not currently have an established SHMT2-specific treatment or drug-choice approach in clinical guidelines. The SHMT2 gene is being studied in early-stage cancer research as a possible drug target because blocking SHMT2 may alter how some tumors use folate and support growth.
Gene function
What if the gene works
Inside mitochondria, the SHMT2 gene helps cells process the amino acid serine and recycle folate, a B vitamin. That work supplies small carbon units that cells use for routine jobs, including making DNA building blocks. Understanding what the SHMT2 gene does in the body helps explain how cells support growth, repair, and everyday metabolism.
Inside mitochondria, the SHMT2 gene helps convert serine into glycine. During that step, it moves a one carbon unit onto folate so the cell can reuse it.
This gene helps keep the mitochondrial folate pathway running. That pathway carries small carbon pieces that cells need for many basic chemical tasks.
The one carbon units made through SHMT2 activity help support the cell’s supply of DNA building blocks. This is especially important when cells are growing, repairing tissue, or preparing to divide.
SHMT2 activity also gives cells glycine, an amino acid used to build proteins and other important molecules. This supports steady day to day cell maintenance.
What is a variant?
A genetic variant is a small alteration in the DNA sequence of a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change a gene’s function more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SHMT2 gene can change how much enzyme reaches mitochondria and how well it folds, binds its vitamin B6 helper, or carries out its chemical step. The functional effect of SHMT2 gene variants ranges from mild reductions in activity to more severe loss of function, depending on whether the DNA change affects the active site, protein stability, or the targeting signal that directs the protein into mitochondria. Some variants leave partial function, while others reduce this process.
How variants are linked to conditions
Current evidence on SHMT2 gene variants and health conditions is still evolving. The SHMT2 gene does not yet have a broadly confirmed link to a specific health condition, though this can change as research develops. Anyone with a confirmed diagnosis involving the SHMT2 gene should rely on guidance from their doctor or genetic counselor rather than general information.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widely seen in the population. Most do not directly affect health and instead represent natural human variation. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-characterized variant in a specific gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the SHMT2 gene. Risk can vary depending on the exact gene change and the health condition involved, so people with SHMT2-related concerns should discuss their personal and family history with a doctor or genetic counselor.
Inheritance of SHMT2 variants
For people looking into how SHMT2 gene variants are inherited, there is not yet a broadly confirmed disease specific inheritance pattern for a well established SHMT2 related condition. The SHMT2 gene is located on chromosome 12, which is an autosome, so you inherit one copy of the SHMT2 gene from each parent. As research progresses, a clearer inheritance pattern may be defined for specific health effects linked to this gene.
What does my SHMT2 result mean for my family?
For SHMT2, the recognized health condition linked to this gene appears to follow a recessive pattern, which means close relatives may be healthy carriers without knowing it. Brothers and sisters could also carry the same gene change, and in some families an affected sibling is possible if both parents are carriers. This mainly matters for family planning and for relatives who want to better understand whether the variant runs in the family.
Genetic information
Genetic testing
How you find out about variants
Genetic testing is how you find out about variants in the SHMT2 gene. A lab usually analyzes DNA from a blood, saliva, or cheek swab sample by reading the gene’s DNA code and checking for changes. Results may find a specific variant, or show that no relevant variant was seen in the parts tested.
When should I consider getting a genetic test?
There is not yet a broadly established, SHMT2-specific reason for genetic testing in routine care. Testing decisions are usually based on your symptoms, family history, and whether a doctor or genetic counselor thinks a broader genetic test could be helpful.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it reveals depends on the condition and the specific type of variant. Many other factors, including lifestyle, environment, age, and medical history, also shape how the body functions over time. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result may offer a clear answer. In areas like medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. One person may break down a drug more slowly, while another may process it faster or be more sensitive to its effects. This is a common reason the same treatment can work well for some people, work less well for others, or cause more side effects in certain individuals.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way people respond to medicines. It looks at the relationship between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence how strongly a drug works or how the body handles it. This information can support more informed, more personalized treatment decisions. More detail on this topic is available in the LearnHub.
Drugs influenced by the SHMT2 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dose, so general concerns about medicines, side effects, or supplements are best discussed with your doctor. SHMT2 has been studied in research on folate-related cancer treatments, but this has not become routine guidance for care.