DISEASES

Disease-gene associations mined from literature

Literature associating PAX6 and coloboma of optic nerve

PAX6 [ENSP00000404100]

Aniridia type II protein; Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes; Belongs to the paired homeobox family.

Synonyms:  PAX6,  PAX6p,  hPAX6,  B1B1I8,  B1B1I9 ...

Linkouts:  STRING  Pharos  UniProt