Reactome: A Curated Pathway Database
Results 1 to 10 of 43
Pathways (33) Reactions (8) Proteins (1) Others (1)
Pathway: Defective EXT2 causes exostoses 2 (Homo sapiens)
Heparan sulfate (HS) is involved in regulating various body functions during development, homeostasi ... on the Golgi membrane. Defects in either EXT1 or EXT2 can cause hereditary multiple exostoses 1 (Petersen 1989) and 2 (McGaughran et al. 1995) respectively (MIM:133700 and MIM:133701), autosomal dominant disorders characterised by multiple projections of bone capped by cartilage resulting in deform ...
Last changed: 2014-11-21 19:49:01

Protein: UniProt:Q93063 EXT2 (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 EXT1 causes exostoses 1, TRPS2 and CHDS (Homo sapiens)
Heparan sulfate (HS) is involved in regulating various body functions functions during development, ... on the Golgi membrane. Defects in either EXT1 or EXT2 can cause hereditary multiple exostoses 1 (Petersen 1989) and 2 (McGaughran et al. 1995) respectively (MIM:133700 and MIM:133701), autosomal dominant disorders characterized by multiple projections of bone capped by cartilage resulting in deform ...
Last changed: 2014-11-21 19:49:01

Reaction: Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan (Homo sapiens)
Exostosin 1 and 2 (EXT1 and 2) are dual-specific glycosyltransferases required to form heparan sulfa ... ate (GlcA) to HS during its synthesis. Defects in EXT2 cause exostoses 2 (MIM:133701), an autosomal dominant disorder characterised by multiple projections of bone capped by cartilage resulting in deformed legs, forearms and hands. Mutations causing exostoses 2 are V187Pfs*115, 404fs*, D227N, G172* ...
Last changed: 2014-11-21 14:40:22

Reaction: Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan (Homo sapiens)
Exostosin 1 and 2 (EXT1 and 2) are dual-specific glycosyltransferases required to form heparan sulfa ... ate (GlcA) to HS during its synthesis. Defects in EXT2 cause exostoses 2 (MIM:133701), an autosomal dominant disorder characterised by multiple projections of bone capped by cartilage resulting in deformed legs, forearms and hands. Mutations causing exostoses 2 are V187Pfs*115, 404fs*, D227N, G172* ...
Last changed: 2014-11-21 14:40:22

Pathway: Defective B4GALT7 causes EDS, progeroid type (Homo sapiens)
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen types I or III. Abnormal collagen renders connective tissues more elastic. The severity of the mutation can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiov
Last changed: 2014-11-21 19:49:01

Pathway: Defective CHST6 causes MCDC1 (Homo sapiens)
Carbohydrate sulfotransferase 6 (CHST6) catalyzes the transfer of sulfate to position 6 of non-reducing ends of N-acetylglucosamine (GlcNAc) residues on keratan sulfate (KS). KS plays a central role in maintaining corneal transparency. Defective CHST6 (Nakazawa et al. 1984) results in unsulfated keratan deposited within the intracellular space and the extracellular corneal stroma leading to macular dys
Last changed: 2014-11-21 19:49:01

Pathway: MPS IX - Natowicz syndrome (Homo sapiens)
Mucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum resulting from deficiency in hyaluronidase 1 (HYAL1, MIM:607071) which normally hydrolyses 1-4 linkages between N-acetylglucosamine (GlcNAc) and D-glucuronate (GlcA) residues. Symptoms of MPS IX are periodica
Last changed: 2014-11-21 19:49:01

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