Zinc Finger Protein 341 (ZNF341)

Role in the Body

The ZNF341 gene carries the blueprint for a transcription factor, a type of protein that binds to specific DNA sequences to regulate gene activity. The ZNF341 protein is believed to control the function of the STAT1 and STAT3 genes, contributing to the production of their respective proteins. These proteins are critical players in immune system processes. They influence cellular mechanisms that help the body defend against viruses, bacteria, fungi, and other harmful agents. Specifically, the STAT3 protein plays an essential role in signaling pathways for the development of immune cells, notably T cells and B cells, and is also crucial for maintaining healthy bones and other tissues.

It is likely ZNF341 also modulates the activity of other genes, though these genes remain unidentified by researchers.

Genetic Health Concerns

Autosomal Dominant Hyper-IgE Syndrome

At least five documented mutations in the ZNF341 gene have been linked to a condition resembling autosomal dominant hyper-IgE syndrome (AD-HIES), an immune disorder characterized by frequent skin and lung infections, as well as elevated levels of an antibody called immunoglobulin E (IgE). Classic AD-HIES typically results from mutations in the STAT3 gene and follows an autosomal dominant inheritance, meaning a single mutated gene copy can cause the condition. However, in cases related to ZNF341, the inheritance pattern is autosomal recessive, which requires that both gene copies be mutated for symptoms to appear.

Mutations in the ZNF341 gene either lead to shortened or completely absent ZNF341 protein. This lack of functional ZNF341 disrupts the production of STAT1 and STAT3 proteins. In particular, insufficient STAT3 impairs the maturation of T cells, especially Th17 cells, along with other immune cells, making individuals highly prone to bacterial and fungal infections. Lung and skin infections are particularly common. Interestingly, STAT1 deficiencies do not appear to account for immune issues in these patients.

Alternative Names for the ZNF341 Gene

• ZNF341 gene

Further Resources

Genetic Testing Options

• Tests for ZNF341

Scientific Research and Literature

• PubMed

Gene and Disease Information

• Zinc Finger Protein 341 (ZNF341) in OMIM

Databases for Gene Variants

• NCBI Gene
• ClinVar

References

• Beziat V, Li J, Lin JX, et al. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol. 2018;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956. Available on PubMed and PubMed Central.
• Frey-Jakobs S, Hartberger JM, et al. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 2018;3(24):eaat4941. doi: 10.1126/sciimmunol.aat4941. Available on PubMed and PubMed Central.
• Zhang Q, Boisson B, et al. Human hyper-IgE syndrome: singular or plural? Mamm Genome. 2018;29(7-8):603-617. doi: 10.1007/s00335-018-9767-2. Available on PubMed and PubMed Central.

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