Disease-gene associations mined from literature

Literature associating CYP27B1 and mineral metabolism disease

CYP27B1 [ENSP00000228606]

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1- alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation; Cytochrome P450 family 27

Synonyms:  CYP27B1,  CYP27B1p,  hCYP27B1,  CYP27B1-001,  CYP27B1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM