Disease-gene associations mined from literature

Literature associating HSD11B1 and apparent mineralocorticoid excess syndrome

HSD11B1 [ENSP00000355995]

Corticosteroid 11-beta-dehydrogenase isozyme 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).

Synonyms:  HSD11B1,  HSD11B1p,  hHSD11B1,  A0A087WU76,  A0A0A0MQV1 ...

Linkouts:  STRING  Pharos  UniProt