Reactome: A Curated Pathway Database
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Pathways (25) Reactions (1) Proteins (1) Others (1)
Protein: UniProt:P40394 ADH7 (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-dehydrocholesterol, does not possess any biological activity. Vitamin D hormonal activity requires hydroxylation at the 25 and 1-alpha positions by cytochrome P450 enzymes CYP2R1 and CYP27B1 respectively. Vitamin D 25-hydroxylase (CYP2R1) catalyses the hydroxylation of vitamin D3 to calcidiol (CDL). Subseque
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP19A1 causes Aromatase excess syndrome (AEXS) (Homo sapiens)
Aromatase (CYP19A1) catalyses the conversion of androstenedione (ANDST) to estrone (E1). Defects in CYP19A1 can cause aromatase excess syndrome (AEXS; MIM:139300) and aromatase deficiency (AROD; MIM:613546). Affected individuals cannot synthesise endogenous estrogens. In females the lack of estrogen leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal develo
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) (Homo sapiens)
Steroid 21-hydroxylase (CYP21A2) specifically catalyses the 21-hydroxylation of steroids which is required for the adrenal synthesis of mineralocorticoids and glucocorticoids. Defects in CYP21A2 can cause adrenal hyperplasia 3 (AH3; MIM:201910), a form of congenital adrenal hyperplasia (CAH) where cortisol synthesis is defective. This results in increased ACTH levels, causing overproduction and accumul
Last changed: 2014-11-21 19:49:01

Pathway: Biological oxidations (Homo sapiens)
All organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ingestion but inhalation and transdermal routes are also common. The very nature of many chemicals that make them suitable for uptake by these routes, in other words their lipophilicty (favours fat so
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) (Homo sapiens)
Bile acids are synthesised from cholesterol via two pathways - a classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and an acidic pathway involving 25-hydroxycholesterol 7-alpha-hydroxylase (CYP7B1). Defects in CYP7B1 can cause spastic paraplegia 5A (SPG5A), a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs (Ts
Last changed: 2014-11-21 19:49:01

Pathway: Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) (Homo sapiens)
Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates both 17-alpha-hydroxylase and 17,20-lyase activity, allowing the adrenal glands and gonads to synthesise both 17-alpha-hydroxylated glucocorticoids and sex steroids respectively (Kagimoto et al. 1998). Defects in CYP17A1 can cause Adrenal hyperplasia 5 (AH5), a form of congenital adrenal hyperplasia (CAH), a common recessive disease due to def
Last changed: 2014-11-21 19:49:01

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-dehydrocholesterol, does not possess any biological activity. Vitamin D hormonal activity requires hydroxylation at the 25 and 1-alpha positions by cytochrome P450 enzymes CYP2R1 and CYP27B1 respectively. Vitamin D 25-hydroxylase (CYP2R1) catalyses the hydroxylation of vitamin D3 to calcidiol (CDL). Subsequent
Last changed: 2014-11-21 19:49:01

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