Alt. symbols: dJ553F4.3

Approved name: zinc finger protein 341
Alt. names: zinc finger protein 341

Location: 20q11.22: 33731657 - 33792269 (+)
Gene type: protein_coding, 7 transcripts.

Scores: LoFtool: 0.578000 | pLI: 0.12418916 | LOEUF: 0.648

HGNC: 15992

NCBI: 84905, RefSeq: NG_053072.1

Ensembl: ENSG00000131061.15

LRG_ | Status: none

OMIM: 618269

Expression | ProteinAtlas

ZNF341 encodes a zinc finger transcription factor that binds to the STAT3 and STAT1 promoters and thereby controls and regulates their expression. STAT1 and STAT3 are key players in the signalling pathways that help fight viral, bacterial, and fungal infections. The STAT3 protein, in particular, transmits signals for the maturation of immune cells, especially T cells and B cells. STAT3 is also involved in normal development and maintenance of bones and other tissues. It is believed that ZNF341 also controls the activity of other genes, although they have not been identified yet.

Biallelic loss of functions mutations in ZNF341 were recently shown to cause a novel autosomal recessive disorder named Hyper-IgE recurrent infection syndrome 3 [MIM:618282], due to its resemblance to the autosomal dominant Hyper-IgE syndrome caused by STAT3 mutations. Absence or dysfunction of ZNF341 protein leads to impaired STAT1 and STAT3 protein production (about 50% of STAT3 protein). A shortage of functional STAT3 blocks the maturation of T cells - specifically Th17 cells - and can also a lter the levels of other immune cells, such as NK cells. It has been suggested that the pathophysiological mechanism underlying ZNF341 deficiency may be a combination of decreased STAT3 levels (~haploinsufficiency) and a defective STAT3 autoinduction (PMID:37080116). [Load More]