STAT3
is a | gene |
is | mentioned by |
ClinVar | STAT3 |
GeneCards | STAT3 |
Diseases | STAT3 |
wikipedia | STAT3 |
STAT3 | |
gopubmed | STAT3 |
EVS | STAT3 |
HEFalMp | STAT3 |
MyGene2 | STAT3 |
23andMe | STAT3 |
# SNPs | 55 |
A member of the STAT protein family, the STAT3 gene on chromosome 17 encodes a transcription factor that plays a critical role in mediating cytokine-induced changes in gene expression.Wikipedia
Loss-of-function mutations in the STAT3 gene result in Hyperimmunoglobulin E syndrome, also known as Job syndrome, which is associated with recurrent infections as well as disordered bone and tooth development. These mutations are rare, and can be dominantly inherited or can be de novo.
Gain-of-function mutations in the STAT3 gene have been reported to cause multi-organ early onset auto-immune diseases; such as thyroid disease, diabetes, intestinal inflammation, and low blood counts, while constitutive STAT3 activation is associated with various human cancers and commonly suggests poor prognosis.