DISEASES

Disease-gene associations mined from literature

Literature associating HSD17B14 and hyperphosphatemic familial tumoral calcinosis

HSD17B14 [ENSP00000263278]

Short chain dehydrogenase/reductase family 47C member 1; Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3- beta,17-beta-diol (in vitro); Short chain dehydrogenase/reductase superfamily

Synonyms:  HSD17B14,  HSD17B14-001,  HSD17B14-002,  HSD17B14-003,  HSD17B14-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM