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PAX8

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Identifiers
SymbolPAX8
External IDsOMIM167415 MGI97492 HomoloGene2589 GeneCards: PAX8 Gene
RNA expression pattern
File:PBB GE PAX8 121 at tn.png
File:PBB GE PAX8 207921 x at tn.png
File:PBB GE PAX8 207923 x at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez784918510
EnsemblENSG00000125618ENSMUSG00000026976
UniProtQ06710Q00288
RefSeq (mRNA)NM_003466NM_011040
RefSeq (protein)NP_003457NP_035170
Location (UCSC)Chr 2:
113.97 – 114.04 Mb
Chr 2:
24.42 – 24.48 Mb
PubMed search[1][2]

Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[1]

Function

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Also functions in very early stages of kidney organogenesis, the mullerian system, and the thymus.[2]

Clinical significance

Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1] A fusion protein, PAX8-PPAR-γ, is implicated in some follicular thyroid carcinomas and follicular-variant papillary thyroid carcinoma.[3]

Interactions

PAX8 has been shown to interact with NK2 homeobox 1.[4]

See also

References

  1. ^ a b "Entrez Gene: PAX8 paired box gene 8". 
  2. ^ Laury AR, Perets R, Piao H et al. (June 2011). "A comprehensive analysis of PAX8 expression in human epithelial tumors". The American Journal of Surgical Pathology 35 (6): 816–26. PMID 21552115. doi:10.1097/PAS.0b013e318216c112. 
  3. ^ Raman P, Koenig RJ (October 2014). "Pax-8-PPAR-γ fusion protein in thyroid carcinoma". Nature Reviews. Endocrinology 10 (10): 616–23. PMID 25069464. doi:10.1038/nrendo.2014.115. 
  4. ^ Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M (January 2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". The Journal of Biological Chemistry 278 (5): 3395–402. PMID 12441357. doi:10.1074/jbc.M205977200. 

Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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