Zinc finger protein GLI3 is a protein that in humans is encoded by the GLI3 gene. [5][6] This gene encodes a protein that belongs to the C2H2-type zinc finger proteins subclass of the Gli family. …

2024年12月25日 · GLI3 (GLI Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with GLI3 include Greig Cephalopolysyndactyly Syndrome and Polydactyly, Postaxial, Type …

In response to HH activation, GLI3-FL regulates HH genes by targeting the GLI1 promoter. In the absence of HH signaling, GLI3 is phosphorylated leading to its partial degradation and the …

2020年4月3日 · The transcription factor GLI3 is a member of the Hedgehog (Hh/HH) signaling pathway that can exist as a full length (Gli3-FL/GLI3-FL) or repressor (Gli3-R/GLI3-R) form. In …

GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related …

GLI3 was identified as a gene in which mutations in GLI3 cause GCPS, a disease leading to craniofacial and limb maldevelopment. In a study by Vortkamp et al (1991), 2 translocations in …

GLI3 is preferentially expressed by human bulge cells, compared to differentiated hair follicle keratinocytes; Gli3 regulates angiogenesis and endothelial cell activity in adult mammals. …

The GLI3 gene belongs to a family of genes that are involved in the normal shaping (patterning) of many tissues and organs during the early stages of development before birth. Learn about this …

2014年4月16日 · Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the …

该基因编码的蛋白质属于 Gli 家族的 C2H2 型锌指蛋白亚类。 它们被表征为 DNA 结合转录因子，并且是 Sonic Hedgehog (Shh) 信号转导的介质。 由该基因编码的蛋白质定位于细胞质并激 …