PAX4
| Paired box gene 4 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | PAX4 ; MGC129960 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 4515 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PAX4 207867 at tn.png | |||||||||||
| File:PBB GE PAX4 211176 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Paired box gene 4, also known as PAX4, is a human gene.[1]
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.[1]
See also
References
Further reading
- Sosa-Pineda B (2005). "The gene Pax4 is an essential regulator of pancreatic beta-cell development". Mol. Cells. 18 (3): 289–94. PMID 15650323.
- Stapleton P, Weith A, Urbánek P; et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
- Tamura T, Izumikawa Y, Kishino T; et al. (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization". Cytogenet. Cell Genet. 66 (2): 132–4. PMID 8287686.
- Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm. Genome. 4 (2): 78–82. PMID 8431641.
- Matsushita T, Yamaoka T, Otsuka S; et al. (1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631.
- Inoue H, Nomiyama J, Nakai K; et al. (1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859.
- Bonthron DT, Dunlop N, Barr DG; et al. (1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome". J. Med. Genet. 35 (4): 288–92. PMID 9598721.
- Tao T, Wasson J, Bernal-Mizrachi E; et al. (1998). "Isolation and characterization of the human PAX4 gene". Diabetes. 47 (10): 1650–3. PMID 9753306.
- Smith SB, Watada H, Scheel DW; et al. (2001). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter". J. Biol. Chem. 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107.
- Miyamoto T, Kakizawa T, Ichikawa K; et al. (2001). "Expression of dominant negative form of PAX4 in human insulinoma". Biochem. Biophys. Res. Commun. 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967.
- Shimajiri Y, Sanke T, Furuta H; et al. (2001). "A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese". Diabetes. 50 (12): 2864–9. PMID 11723072.
- Kanatsuka A, Tokuyama Y, Nozaki O; et al. (2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metab. Clin. Exp. 51 (9): 1161–5. PMID 12200761.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Shimajiri Y, Shimabukuro M, Tomoyose T; et al. (2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans". Biochem. Biophys. Res. Commun. 302 (2): 342–4. PMID 12604352.
- Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
- Kemp DM, Lin JC, Habener JF (2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor". J. Biol. Chem. 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700.
- Holm P, Rydlander B, Luthman H; et al. (2004). "Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families". Diabetes. 53 (6): 1584–91. PMID 15161765.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Brun T, Franklin I, St-Onge L; et al. (2005). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets". J. Cell Biol. 167 (6): 1123–35. doi:10.1083/jcb.200405148. PMID 15596543.
External links
- PAX4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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