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. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling.

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 A1. Among its related pathways are Gene expression (Transcription) and Signaling by Hedgehog.

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 generation of GLI3-R which represses HH functions. GLI3 is also involved in tissue development, immune cell development and cancer.

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 response to HH activation, GLI3-FL regulates HH genes by targeting the GLI1 promoter. In the absence of HH signaling, GLI3 is ph …

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 polydactyly are discussed first. This is followed by a detailed review …

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 were identified, which interrupt GLI3 expression and cause GCPS .

GLI3 is preferentially expressed by human bulge cells, compared to differentiated hair follicle keratinocytes; Gli3 regulates angiogenesis and endothelial cell activity in adult mammals. Sonic hedgehog protein, GLI1-3 and ATP-binding cassette G2 are aberrantly expressed in diffuse large B-cell lymphoma.

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 gene and related health conditions.

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 GLI3 gene (6 GCPS cases)....

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活修补的果蝇同系物 (PTCH) 基因表达。 它也被认为在胚胎发生过程中发挥作用。 该基因的突变与多种疾病有关，包括 Greig 头多指综合征、Pallister-Hall 综合征、轴前多指畸形 IV 型以及轴后多指畸形 A1 和 B 型。 [RefSeq 提供，2008 年 7 月]