Reactome: A Curated Pathway Database
Results 1 to 10 of 35
Pathways (33) Reactions (1) Proteins (1) Others (0)
Protein: UniProt:Q8WWQ2 HPSE2 (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

Reaction: Heparanase 2 (HPSE2) cleaves heparan sulfate from its proteoglycan (plasma membrane) (Homo sapiens)
Heparanase 2 (HPSE2) (McKenzie et al. 2000) is a membrane-bound endoglycosidase that cleaves heparan sulfate (HS) from its HS proteoglycan (HSPG), either in the extracellular matrix or the basement membranes of cells. Defects in HPSE2 are the cause of urofacial syndrome (UFS) (MIM:236730) (Daly et al. 2010, Pang et al. 2010)
Last changed: 2014-11-21 06:36:34

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

Pathway: Defective SLC26A2 causes chondrodysplasias (Homo sapiens)
The SLC26A1 and 2 genes encode sulfate transporter proteins that facilitate sulfate uptake into cells, critical in cartilage for sulfation of proteoglycans and extracellular matrix organization. Defects in SLC26A2 result in impaired SO4(2-) transport leading to insufficient sulfation of cartilage proteoglycans. Defective SLC26A2 is implicated in the pathogenesis of a spectrum of autosomal recessive hum
Last changed: 2014-11-21 19:49:01

Pathway: MPS IV - Morquio syndrome B (Homo sapiens)
Defects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deterioration, as well as in mucopolysaccharidosis IVB, a characteristic mucopolysaccharidosis with no neurological symptoms (Callahan 1999). Mucopolysaccharidosis IVB (MPS IVB, Morquio's syndrome B; MIM:253010
Last changed: 2014-11-21 19:49:01

Pathway: MPS I - Hurler syndrome (Homo sapiens)
Mucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where there is a deficiency of alpha-L iduronidase (IDUA, MIM:252800), a glycosidase that removes non-reducing terminal alpha-L-iduronide residues during the lysosomal degradation of the glycosaminoglycans heparan
Last changed: 2014-11-21 19:49:01

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