PAX8


PAX8
Paired box 8

PDB rendering based on 1k78.
Identifiers
Symbols PAX8;
External IDs OMIM167415 MGI97492 HomoloGene2589 GeneCards: PAX8 Gene
RNA expression pattern
PBB GE PAX8 121 at tn.png
PBB GE PAX8 207921 x at tn.png
PBB GE PAX8 207923 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7849 18510
Ensembl ENSG00000125618 ENSMUSG00000026976
UniProt Q06710 Q6GU20
RefSeq (mRNA) NM_003466.3 NM_011040.3
RefSeq (protein) NP_003457.1 NP_035170.1
Location (UCSC) Chr 2:
113.97 – 114.04 Mb
Chr 2:
24.28 – 24.33 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]

Contents

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.

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]


Interactions

PAX8 has been shown to interact with NK2 homeobox 1.[2]

See also

References

  1. ^ a b "Entrez Gene: PAX8 paired box gene 8". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7849. 
  2. ^ Di Palma, Tina; Nitsch Roberto, Mascia Anna, Nitsch Lucio, Di Lauro Roberto, Zannini Mariastella (Jan. 2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". J. Biol. Chem. (United States) 278 (5): 3395–402. doi:10.1074/jbc.M205977200. ISSN 0021-9258. PMID 12441357. 

3. pax8 gene expression data and interactants in Xenopus from Xenbase [3]

Further reading

External links

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


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • PAX8 — Paired Box Protein 8 PAX 5 (gelb) mit ETS 1 (grün) auf DNA (blau) nach PDB  …   Deutsch Wikipedia

  • Pax8 — Paired Box Protein 8 PAX 5 (gelb) mit ETS 1 (grün) auf DNA (blau) nach PDB  …   Deutsch Wikipedia

  • Paired-Box-Protein 8 — PAX 5 (gelb) mit ETS 1 (grün) auf DNA (blau) nach PDB  …   Deutsch Wikipedia

  • Pax-8 — Paired Box Protein 8 PAX 5 (gelb) mit ETS 1 (grün) auf DNA (blau) nach PDB  …   Deutsch Wikipedia

  • Pax 8 — Paired Box Protein 8 PAX 5 (gelb) mit ETS 1 (grün) auf DNA (blau) nach PDB  …   Deutsch Wikipedia

  • NK2 homeobox 1 — Not to be confused with transcription termination factor, RNA polymerase I or TTF1. NK2 homeobox 1 PDB rendering based on 1ftt …   Wikipedia

  • Congenital hypothyroidism — Classification and external resources ICD 10 E00, E03.0, E03.1 …   Wikipedia

  • Peroxisome proliferator-activated receptor gamma — PDB rendering based on 1fm6 …   Wikipedia

  • Follicular thyroid cancer — Classification and external resources Gross pathological section of a follicular thyroid adenoma (tumor at the bottom). ICD 10 C …   Wikipedia

  • NKX2-1 — Thyroidaler Transkriptionsfaktor 1 Vorhandene Strukturdaten: 1ftt …   Deutsch Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.