Reactome: A Curated Pathway Database
Results 1 to 10 of 35
Pathways (14) Reactions (15) Proteins (1) Others (5)
Protein: UniProt:P16112 ACAN (Homo sapiens)
Last changed: 2015-03-10 08:49:45

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: Extracellular matrix organization (Homo sapiens)
The extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded in a viscoelastic gel of anionic proteoglycan polymers. It performs many functions in addition to its structural role; as a major component of the cellular microenvironment it influences cell behaviours su
Last changed: 2015-03-06 18:40:03

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: 2015-02-09 16:16:33

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

Pathway: Degradation of the extracellular matrix (Homo sapiens)
Matrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the metzincin family. They contain a characteristic zinc-binding motif HEXXHXXGXXH (Stocker & Bode 1995) and a conserved Methionine which forms a Met-turn. Humans have 24 MMP genes giving rise to 23 MMP protei
Last changed: 2015-03-06 18:40:03

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: Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) (Homo sapiens)
Congenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemically by hypoglycosylation of glycoproteins, diagnosed by isoelectric focusing (IEF) of serum transferrin. There are two types of CDG, types I and II. Type I CDG has defects in the assembly of lipid-linked ol
Last changed: 2015-02-09 16:16:33

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