GLIS3
Function
Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).
Involvement in disease
Diabetes mellitus, neonatal, with congenital hypothyroidism
NDH
A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GLI C2H2-type zinc-finger protein family.
Tissue Specificity
In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary.
Cellular localization
- Nucleus
Alternative names
ZNF515, GLIS3, Zinc finger protein GLIS3, GLI-similar 3, Zinc finger protein 515