基因名称(Gene Name)
GLIS3 ZNF515
免疫原
Synthesized peptide derived from human GLIS3 AA range: 381-431
特异性
This antibody detects endogenous levels of GLIS3 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
纯化工艺
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008],
功能
disease:Defects in GLIS3 are a cause of NDH syndrome [MIM:610199]; also called neonatal diabetes mellitus with congenital hypothyroidism. NDH syndrome is a new neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.,function:Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3'.,similarity:Belongs to the GLI C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,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.,
