DISEASES

Disease-gene associations mined from literature

Literature associating CYP24A1 and rickets

CYP24A1 [ENSP00000216862]

1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product; Cytochrome P450 family 24

Synonyms:  CYP24A1,  CYP24A1p,  hCYP24A1,  CYP24A1-001,  CYP24A1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM