其他名称： GLI3; Transcriptional activator GLI3; GLI3 form of 190 kDa; GLI3-190; GLI3 full length protein; GLI3FL
分子量： 14kD
信号通路： Hedgehog;Pathways in cancer;Basal cell carcinoma;
功能： disease:Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. Pallister-Hall syndrome 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.,disease:Defects in GLI3 are a cause of type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200, 603596]. PAPA in humans is an autosomal dominant 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.,disease:Defects in GLI3 are a cause of type IV preaxial polydactyly [MIM:174700]. Preaxial polydactyly (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.,disease:Defects in GLI3 are the cause of acrocallosal syndrome (ACS) [MIM:200990]; also abbreviated ACLS. ACS is characterized by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay.,disease:Defects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]; an autosomal dominant disorder affecting limb and craniofacial development. GCPS is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.,function:Plays a role in limb and brain development. Implicated in the transduction of SHH signal.,similarity:Belongs to the GLI C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,tissue specificity:Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Cytoplasm. Cell projection, cilium. GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. Translocation to the nucleus is promoted by interaction with ZIC1.
组织表达： Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.
其他名称： GLI3; Transcriptional activator GLI3; GLI3 form of 190 kDa; GLI3-190; GLI3 full length protein; GLI3FL
分子量： 14kD
信号通路： Hedgehog;Pathways in cancer;Basal cell carcinoma;
功能： disease:Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. Pallister-Hall syndrome 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.,disease:Defects in GLI3 are a cause of type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200, 603596]. PAPA in humans is an autosomal dominant 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.,disease:Defects in GLI3 are a cause of type IV preaxial polydactyly [MIM:174700]. Preaxial polydactyly (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.,disease:Defects in GLI3 are the cause of acrocallosal syndrome (ACS) [MIM:200990]; also abbreviated ACLS. ACS is characterized by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay.,disease:Defects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]; an autosomal dominant disorder affecting limb and craniofacial development. GCPS is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.,function:Plays a role in limb and brain development. Implicated in the transduction of SHH signal.,similarity:Belongs to the GLI C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,tissue specificity:Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Cytoplasm. Cell projection, cilium. GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. Translocation to the nucleus is promoted by interaction with ZIC1.
组织表达： Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.
在线咨询
湘公网安备