Reactome: A Curated Pathway Database
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Pathways (30) Reactions (1) Proteins (1) Others (0)
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 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

Pathway: Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) (Homo sapiens)
Cytochrome P450 2U1 (CYP2U1) catalyses the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids, generating bioactive eicosanoid derivatives which may play an important physiological role in fatty acid signaling processes. Defects in CYP2U1 can cause Spastic paraplegia 56, autosomal recessive (SPG56; MIM:615030), a neurodegenerative disorder characterised by a slow,
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) (Homo sapiens)
Retinoic acid (RA) is a biologically active analogue of vitamin A (retinol). RA plays an important role in regulating cell growth and differentiation. CYP26C1 is involved in the metabolic breakdown of RA by 4-hydroxylation. While CYP26C1 can hydroxylate the trans form, it is unique in hydroxylating the 9-cis isomer of RA (9cRA) (Taimi et al. 2004). Defects in CYP26C1 can cause focal facial dermal dyspl
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) (Homo sapiens)
Cytochrome P450 4F22 (CYP4F22) is thought to 20-hydroxylate trioxilin A3 (TrXA3), an intermediary metabolite from the 12(R)-lipoxygenase pathway. This pathway is implicated in proliferative skin diseases. The major products of arachidonic acid in keratinocytes are 12- and 15-HETE which undergo biotransformation to products involved in skin hydration. CYP4F22 mutations can lead to autosomal recessive co
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) (Homo sapiens)
Catabolic inactivation of the active, hormonal form of vitamin D3 (calcitriol, CALTOL, 1,25-dihydroxyvitamin D3) is initially carried out by 24-hydroxylation, mediated by 1,25-dihydroxyvitamin D3 24-hydroxylase (CYP24A1). The product formed is eventually transformed to calcitroic acid, the major water-soluble metabolite that can be excreted in bile. Defects in CYP24A1 can cause hypercalcemia infantile
Last changed: 2014-11-21 19:49:01

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