ZNF341

Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription.

Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections

HIES3

An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the krueppel C2H2-type zinc-finger protein family.

• Nucleus

Zinc finger protein 341, ZNF341

• entrezGene:84905
• swissprot:Q9BYN7

Proteins

92728Da