DISEASES

Disease-gene associations mined from literature

Literature associating HSD11B1 and apparent mineralocorticoid excess syndrome

HSD11B1 [ENSP00000355995]

Short chain dehydrogenase/reductase family 26C member 1; Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7- ketocholesterol to 7-beta-hydroxycholesterol (By similarity); Short chain dehydrogenase/reductase superfamily

Synonyms:  HSD11B1,  HSD11B1p,  hHSD11B1,  P28845,  X5D2L1 ...

Linkouts:  STRING  Pharos  UniProt