Aliases for PAX4 Gene
External Ids for PAX4 Gene
Previous GeneCards Identifiers for PAX4 Gene
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 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
GeneCards Summary for PAX4 Gene
PAX4 (Paired Box 4) is a Protein Coding gene. Diseases associated with PAX4 include Maturity-Onset Diabetes Of The Young, Type 9 and Diabetes Mellitus, Ketosis-Prone. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Developmental Biology. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II distal enhancer sequence-specific DNA binding. An important paralog of this gene is PAX6.
UniProtKB/Swiss-Prot Summary for PAX4 Gene
Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.