This gene is a member of the paired box (PAX) family oftranscription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-typehomeodomain. These genes play critical roles during fetal development andcancer growth. The paired box gene 4 is involved inpancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producingbeta cells.[5]
^Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4".Biochemical and Biophysical Research Communications.242 (1):176–80.Bibcode:1998BBRC..242..176M.doi:10.1006/bbrc.1997.7935.PMID9439631.
^Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue".Biochemical and Biophysical Research Communications.243 (2):628–33.Bibcode:1998BBRC..243..628I.doi:10.1006/bbrc.1998.8144.PMID9480859.
Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9".Nature Genetics.3 (4):292–8.doi:10.1038/ng0493-292.PMID7981748.S2CID21338655.
Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization".Cytogenetics and Cell Genetics.66 (2):132–4.doi:10.1159/000133684.PMID8287686.
Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes".Mammalian Genome.4 (2):78–82.doi:10.1007/BF00290430.PMID8431641.S2CID30845070.
Matsushita T, Yamaoka T, Otsuka S, Moritani M, Matsumoto T, Itakura M (Jan 1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4".Biochemical and Biophysical Research Communications.242 (1):176–80.Bibcode:1998BBRC..242..176M.doi:10.1006/bbrc.1997.7935.PMID9439631.
Inoue H, Nomiyama J, Nakai K, Matsutani A, Tanizawa Y, Oka Y (Feb 1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue".Biochemical and Biophysical Research Communications.243 (2):628–33.Bibcode:1998BBRC..243..628I.doi:10.1006/bbrc.1998.8144.PMID9480859.
Miyamoto T, Kakizawa T, Ichikawa K, Nishio S, Kajikawa S, Hashizume K (Mar 2001). "Expression of dominant negative form of PAX4 in human insulinoma".Biochemical and Biophysical Research Communications.282 (1):34–40.Bibcode:2001BBRC..282...34M.doi:10.1006/bbrc.2001.4552.PMID11263967.
Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T (Sep 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4".Metabolism.51 (9):1161–5.doi:10.1053/meta.2002.34707.PMID12200761.
Shimajiri Y, Shimabukuro M, Tomoyose T, Yogi H, Komiya I, Takasu N (Mar 2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans".Biochemical and Biophysical Research Communications.302 (2):342–4.Bibcode:2003BBRC..302..342S.doi:10.1016/S0006-291X(03)00176-1.PMID12604352.
