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ZNF341 gene
URL of this page: https://medlineplus.gov/genetics/gene/znf341/

ZNF341 gene

zinc finger protein 341

Normal Function

The ZNF341 gene provides instructions for making a transcription factor, which is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The ZNF341 protein is thought to regulate the activity of the STAT1 and STAT3 genes, controlling production of the STAT1 and STAT3 proteins, respectively. Both proteins are involved in the immune system. They control pathways in cells that help fight foreign invaders such as viruses, bacteria, and fungi. The STAT3 protein, in particular, transmits signals for the maturation of immune system cells, especially T cells and B cells. STAT3 is also involved in normal development and maintenance of bones and other tissues.

Researchers suspect that the ZNF341 protein controls the activity of other genes, although they have not been identified.

Health Conditions Related to Genetic Changes

Autosomal dominant hyper-IgE syndrome

At least five mutations in the ZNF341 gene have been found to cause a condition similar to autosomal dominant hyper-IgE syndrome (AD-HIES), which is a disorder of the immune system characterized by recurrent skin and lung infections and abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. AD-HIES is usually caused by STAT3 gene mutations and follows an autosomal dominant pattern of inheritance, which means one altered copy of the gene is sufficient to cause the disorder. In contrast, the condition caused by ZNF341 gene mutations follows an autosomal recessive pattern of inheritance, which means both copies of the gene must be altered for immune system problems to develop.

The ZNF341 gene mutations that cause an AD-HIES-like condition result in production of an abnormally short ZNF341 protein or production of no protein. With little or no ZNF341 protein, production of the STAT1 and STAT3 proteins is impaired. A shortage of functional STAT3 blocks the maturation of T cells (specifically a subset known as Th17 cells) and other immune cells. The resulting immune system abnormalities make people with AD-HIES highly susceptible to infections, particularly bacterial and fungal infections of the lungs and skin. A shortage of STAT1 protein is not thought to contribute to immune system problems in affected individuals.

More About This Health Condition

Other Names for This Gene

  • ZNF341 gene

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of ZNF341 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • ZINC FINGER PROTEIN 341; ZNF341

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Levy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Muller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol. 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956. Citation on PubMed or Free article on PubMed Central
  • Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Frobel P, Noltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schaffer AA, Lagovsky I, Lachover-Roth I, Beziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 2018 Jun 15;3(24):eaat4941. doi: 10.1126/sciimmunol.aat4941. Citation on PubMed or Free article on PubMed Central
  • Zhang Q, Boisson B, Beziat V, Puel A, Casanova JL. Human hyper-IgE syndrome: singular or plural? Mamm Genome. 2018 Aug;29(7-8):603-617. doi: 10.1007/s00335-018-9767-2. Epub 2018 Aug 9. Citation on PubMed or Free article on PubMed Central
DNA helix

Genomic Location

The ZNF341 gene is found on chromosome 20.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

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