paired box 8
Zuletzt aktualisiert 18. Aug 2020
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Der PAX8 gene belongs to a family of genes that play critical roles in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach to specific areas of DNA. By attaching to critical DNA regions, these proteins help control the activity of particular genes (gene expression). On the basis of this action, PAX proteins are called transcription factors.
Normal function
Der PAX8 gene belongs to a family of genes that play critical roles in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach to specific areas of DNA. By attaching to critical DNA regions, these proteins help control the activity of particular genes (gene expression). On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX8 protein is thought to activate genes involved in the formation of the kidney and the thyroid gland. The thyroid gland is a butterfly-shaped tissue in the lower neck. It releases hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Following birth, the PAX8 protein regulates several genes involved in the production of thyroid hormones.
Conditions referring to this gene or chromosome
Other names
paired box gene 8
PAX8_HUMAN
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Weiterführende Lektüre und Referenzen
- paired box 8; MedlinePlus, National Library of Medicine.
- Cheung L, Messina M, Gill A, Clarkson A, Learoyd D, Delbridge L, Wentworth J, Philips J, Clifton-Bligh R, Robinson BG. Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas. J Clin Endocrinol Metab. 2003 Jan;88(1):354-7. doi: 10.1210/jc.2002-021020.
- Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul;19(7):1779-91. doi: 10.1210/me.2004-0426. Epub 2005 Feb 17.
- Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takahashi I, Takada G. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. J Pediatr. 2001 Oct;139(4):597-9. doi: 10.1067/mpd.2001.117071.
- Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. doi: 10.1038/ng0598-83.
- Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158.
- Pasca di Magliano M, Di Lauro R, Zannini M. Pax8 has a key role in thyroid cell differentiation. Proc Natl Acad Sci U S A. 2000 Nov 21;97(24):13144-9. doi: 10.1073/pnas.240336397.
- Raman P, Koenig RJ. Pax-8-PPAR-gamma fusion protein in thyroid carcinoma. Nat Rev Endocrinol. 2014 Oct;10(10):616-23. doi: 10.1038/nrendo.2014.115. Epub 2014 Jul 29.
- Ramos HE, Carre A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Leger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. Eur J Endocrinol. 2014 Oct;171(4):499-507. doi: 10.1530/EJE-13-1006.
- Tell G, Pellizzari L, Esposito G, Pucillo C, Macchia PE, Di Lauro R, Damante G. Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. Biochem J. 1999 Jul 1;341 ( Pt 1)(Pt 1):89-93.
- Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab. 2001 Jan;86(1):234-8. doi: 10.1210/jcem.86.1.7140.
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18. Aug 2020 | Neueste Version
1 Sept 2015 | Ursprünglich veröffentlicht
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