Reactome: A Curated Pathway Database
Results 1 to 10 of 20
Pathways (10) Reactions (4) Proteins (1) Others (5)
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: 2015-02-09 16:16:33

Protein: UniProt:Q93063 EXT2 (Homo sapiens)
Last changed: 2015-03-10 08:59:22

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: 2015-03-06 23:15:47

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: 2015-03-06 23:15:47

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: 2015-02-09 16:16:33

FailedReaction: 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: 2015-02-03 17:37:01

FailedReaction: 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: 2015-02-03 17:37:01

Pathway: Metabolism of carbohydrates (Homo sapiens)
These pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the body (as glycogen) and its mobilization during a short fast; and 3) the synthesis of glucose from pyruvate during extended fasts
Last changed: 2015-03-06 23:15:47

Pathway: Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
A number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of glycosaminoglycans (GAGs) as well as hexosaminidase degradation of GAGs (Mizumoto et al. 2013)
Last changed: 2014-07-10 08:35:02

Pathway: Diseases of glycosylation (Homo sapiens)
Diseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosyltransfer events and vesicular transport. Most CDGs cause neurological impairment ranging from severe psychomotor retardation to mild intellectual disability. Defects in N-glycosylation are the main cause of
Last changed: 2014-09-08 16:04:35

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