Immunogen
Synthesized peptide derived from human GLIS2 AA range: 442-492
Specificity
This antibody detects endogenous levels of GLIS2 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010],
Function
disease:Defects in GLIS2 are the cause of nephronophthisis type 7 (NPHP7) [MIM:611498]. NPHP7 is an autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.,domain:The C2H2-type zinc finger 1 has a major repressor function and is required for CTNNB1 binding.,function:Can act either as a transcription repressor or as a transcription activator, depending on the cell context. Represses the transcriptional activation mediated by CTNNB1 in the Wnt pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation.,PTM:C-terminus cleavage is induced by interaction with CTNND1 and enhanced b
Human protein sequence Database
Q9BZE0
Mouse protein sequence database
Q8VDL9
Rat protein sequence database
Cellular localization
Nucleus speckle . Cytoplasm .
Tissue expression
Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon.
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