Reactome: A Curated Pathway Database
Results 1 to 10 of 33
Pathways (30) Reactions (1) Proteins (1) Others (1)
Pathway: Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) (Homo sapiens)
Vitamin D3 (cholecalciferol), synthesised in human skin by ultraviolet radiation action on 7-dehydro ... a positions by cytochrome P450 enzymes CYP2R1 and CYP27B1 respectively. Vitamin D 25-hydroxylase (CYP2R1) catalyses the hydroxylation of vitamin D3 to calcidiol (CDL). Subsequent 1-alpha-hydroxylation of CDL by CYP27B1 produces calcitriol (CTL). CTL binds and activates the nuclear vitamin D receptor ...
Last changed: 2014-11-21 19:49:01

Protein: UniProt:O15528 CYP27B1 (Homo sapiens)
Last changed: 2014-11-26 10:20:21

Pathway: Disease (Homo sapiens)
Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally
Last changed: 2014-11-21 19:49:01

Pathway: Metabolism (Homo sapiens)
Metabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as the inactivation and elimination of toxic ones generated endogenously or present in the extracellular environment. The processes of energy metabolism can be classified into two groups according to whether the
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) (Homo sapiens)
Vitamin D3 (cholecalciferol), synthesised in human skin by ultraviolet radiation action on 7-dehydro ... a positions by cytochrome P450 enzymes CYP2R1 and CYP27B1 respectively. Vitamin D 25-hydroxylase (CYP2R1) catalyses the hydroxylation of vitamin D3 to calcidiol (CDL). Subsequent 1-alpha-hydroxylation of CDL produces calcitriol (CTL). CTL binds and activates the nuclear vitamin D receptor, with s ...
Last changed: 2014-11-21 19:49:01

Reaction: CYP27B1 hydroxylates CDL (Homo sapiens)
The second step in vitamin D3 activation requires hydroxylation of 25-hydroxyvitamin D3 (calcidiol, CDL) to 1alpha-25-dihydroxyvitamin D3 (calcitriol, CTL). This conversion is mediated by 25-hydroxyvitamin D-1alpha hydroxylase (CYP27B1) (Zehnder et al. 2002, Fritsche et al. 2003)
Last changed: 2014-11-25 21:08:03

FailedReaction: Defective CYP27B1 does not hydroxylate CDL (Homo sapiens)
The second step in vitamin D3 activation requires hydroxylation of 25-hydroxyvitamin D3 (calcidiol) ... diated by 25-hydroxyvitamin D-1alpha hydroxylase (CYP27B1) (Zehnder et al. 2002, Fritsche et al. 2003). Defects in CYP27B1 can cause rickets, vitamin D-dependent 1A (VDDR1A; MIM:264700), a disorder caused by deficiency of the active form of vitamin D (CTL) resulting in defective bone mineralization ...
Last changed: 2014-11-07 15:56:00

Pathway: Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) (Homo sapiens)
Cytochrome P450 11B1, mitochondrial (CYP11B1) possesses steroid 11-beta-hydroxylase activity which can convert 11-deoxycortisol to cortisol. 11-beta-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH) (5-8%), second only to 21-hydroxylase deficiency which accounts for more than 90% of CAH (Zhao et al. 2008). Defects in CYP11B1 can cause Adrenal hyperplasia 4 (AH4; M
Last changed: 2014-11-21 19:49:01

Pathway: Metabolism of steroid hormones and vitamin D (Homo sapiens)
Steroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual development and function (androgens and estrogens). All steroids are synthesized from cholesterol. Steroid hormone synthesis is largely regulated at the initial steps of cholesterol mobilization and transport in
Last changed: 2014-11-21 19:49:01

Pathway: Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) (Homo sapiens)
Thromboxane-A synthase (TBXAS1), an enzyme of the arachidonic acid cascade, produces thromboxane A2 (TXA2) from prostaglandin H2 (PGH2). Together with prostacyclin (PGI2), TXA2 plays a key role in the maintenance of haemostasis. It is also a constrictor of vascular and respiratory smooth muscle and implicated in the induction of osteoclast differentiation and activation. Defects in TBXAS1 can cause Gho
Last changed: 2014-11-21 19:49:01

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