GLI family zinc finger 3
अंतिम अद्यतन 11 Apr 2023
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यह 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. To carry out this role, proteins produced from genes in the GLI family attach to specific regions of DNA and help control whether particular genes are turned on or off (gene expression). GLI proteins are called transcription factors on the basis of this action.
Normal function
यह 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. To carry out this role, proteins produced from genes in the GLI family attach to specific regions of DNA and help control whether particular genes are turned on or off (gene expression). GLI proteins are called transcription factors on the basis of this action.
Proteins in the GLI family function in the same molecular pathway as a protein called Sonic Hedgehog. This pathway is essential for early development. It plays a role in cell growth, cell specialization, and the patterning of structures such as the brain and limbs. Depending on signals from Sonic Hedgehog, the GLI3 protein can either turn on (activate) or turn off (repress) other genes. Researchers are working to identify the genes targeted by the GLI3 protein during development.
Conditions referring to this gene or chromosome
Other names
ACLS
GCPS
GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
GLI3_HUMAN
oncogene GLI3
PAP-A
PAPA
PAPA1
PAPB
PHS
PPDIV
zinc finger protein GLI3
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अधिक पठन और संदर्भ
- GLI family zinc finger 3; MedlinePlus, National Library of Medicine.
- Biesecker LG, Johnston J. Syndromic and non-syndromic GLI3 phenotypes. Clin Genet. 2005 Sep;68(3):284; author reply 285. doi: 10.1111/j.1399-0004.2005.0485a.x. No abstract available.
- Biesecker LG, Johnston JJ. GLI3-Related Greig Cephalopolysyndactyly Syndrome. 2001 Jul 9 [updated 2025 Aug 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1446/
- Biesecker LG. GLI3-Related Pallister-Hall Syndrome. 2000 May 25 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1465/
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- Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.
- Kang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266.
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- Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, Konig R, Grzeschik KH. Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet. 1997 Oct;6(11):1979-84. doi: 10.1093/hmg/6.11.1979.
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