DISEASES

Disease-gene associations mined from literature

Literature associating ESX1 and Axenfeld-Rieger syndrome type 1

ESX1 [ENSP00000361669]

Homeobox protein ESX1-C; May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.

Synonyms:  ESX1,  ESX1p,  hESX1,  Q8N693,  Q8N693p ...

Linkouts:  STRING  Pharos  UniProt  OMIM