GLIS2 rabbit pAb

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 by Src tyrosine kinase.,similarity:Belongs to the GLI C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,subunit:Interacts with CTBP1 and HDAC3. Interacts with CTNNB1 (By similarity). Interacts with CTNND1.,tissue specificity:Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon.,