GLI3 Antibody – Goat Polyclonal

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

GLI3: Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. Defects in GLI3 are the cause of Greig cephalo-poly- syndactyly syndrome (GCPS). GCPS is an autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS). PHS is characterized by a wide range of clinical manifestations. It mainly associates central or postaxial polydactyly, syndactyly, and hypothalamic hamartoma. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. It is an autosomal dominant disorder. Defects in GLI3 are a cause of polydactyly postaxial type A1 (PAPA1). A trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional. Defects in GLI3 are a cause of polydactyly postaxial type B polydactyly (PAPB). A trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is not well formed and is frequently in the form of a skin. Defects in GLI3 are a cause of polydactyly preaxial type 4 (POP4). Polydactyly preaxial type 4 (i.e. polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV, the thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. Belongs to the GLI C2H2-type zinc-finger protein family.

Protein type: C2H2-type zinc finger protein; Transcription factor

Chromosomal Location of Human Ortholog: 7p13

Cellular Component: axoneme; cilium; cytoplasm; cytosol; nuclear speck; nucleoplasm; nucleus; Srb-mediator complex; transcriptional repressor complex

Molecular Function: beta-catenin binding; chromatin binding; histone acetyltransferase binding; histone deacetylase binding; metal ion binding; protein binding; transcription factor activity

Biological Process: anterior/posterior pattern formation; axon guidance; camera-type eye morphogenesis; developmental growth; embryonic digestive tract morphogenesis; embryonic digit morphogenesis; embryonic gut development; embryonic skeletal morphogenesis; forebrain dorsal/ventral pattern formation; heart development; hindgut morphogenesis; hippocampus development; in utero embryonic development; lateral ganglionic eminence cell proliferation; layer formation in the cerebral cortex; limb morphogenesis; lung development; melanocyte differentiation; metanephros development; negative regulation of alpha-beta T cell differentiation; negative regulation of apoptosis; negative regulation of cell proliferation; negative regulation of neuron differentiation; negative regulation of smoothened signaling pathway; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; negative thymic T cell selection; nose morphogenesis; odontogenesis of dentine-containing teeth; oligodendrocyte differentiation; optic nerve morphogenesis; palate development; positive regulation of alpha-beta T cell differentiation; positive regulation of chondrocyte differentiation; positive regulation of neuroblast proliferation; positive regulation of osteoblast differentiation; positive regulation of protein import into nucleus; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein processing; proximal/distal pattern formation; radial glial cell differentiation in the forebrain; response to estrogen stimulus; smoothened signaling pathway; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; smoothened signaling pathway involved in ventral spinal cord interneuron specification; T cell differentiation in the thymus; tongue development; transcription from RNA polymerase II promoter; ureteric bud branching; wound healing

Disease: Greig Cephalopolysyndactyly Syndrome; Hypothalamic Hamartomas; Pallister-hall Syndrome; Polydactyly, Postaxial, Type A1; Polydactyly, Preaxial Iv; Tracheoesophageal Fistula With Or Without Esophageal Atresia