DISEASES

Disease-gene associations mined from literature

Literature associating EDF1 and autosomal recessive nonsyndromic deafness 79

EDF1 [ENSP00000224073]

Endothelial differentiation-related factor 1; Transcriptional coactivator stimulating NR5A1 and ligand- dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone- induced cardiomyocytes hypertrophy and lipid metabolism.

Synonyms:  EDF1,  EDF1p,  hEDF1,  O60869,  O60869p ...

Linkouts:  STRING  Pharos  UniProt  OMIM