DISEASES

Disease-gene associations mined from literature

Literature associating PAX4 and overhydrated hereditary stomatocytosis

PAX4 [ENSP00000339906]

Paired box protein Pax-4; 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; PRD class homeoboxes and pseudogenes

Synonyms:  PAX4,  PAX4p,  hPAX4,  G3V4Q1,  J3KPG0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM