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Details on Person Biglycan is a member of the small leucine-rich repeat proteo...
| Class:Id | Summation:9018147 |
|---|---|
| _displayName | Biglycan is a member of the small leucine-rich repeat proteo... |
| _timestamp | 2017-09-06 10:04:55 |
| created | [InstanceEdit:9018149] Varusai, Thawfeek, 2017-08-30 |
| modified | [InstanceEdit:9018155] Varusai, Thawfeek, 2017-08-30 [InstanceEdit:9020462] Varusai, Thawfeek, 2017-09-06 |
| text | Biglycan is a member of the small leucine-rich repeat proteoglycan family (SLRPs) which also includes decorin, fibromodulin, lumican and asporin. All appear to be involved in collagen fibril formation and matrix assembly (Ameye & Young 2002). Mutations in COL1A1 result in structurally defective type 1 collagen. This abnormal type 1 collagen forms non-functional fibrils, which eventually leads to disorders. COL1A1 mutations may lead to disorders such as osteogenesis imperfecta. Mutations in only one COL1A1 allele may cause a mild disease because of reduced normal type 1 collagen. Severe and lethal diseases occur when there are dominant negative mutations in COL1A1 producing structurally defective type 1 collagen. Most common mutations are glycine residue substitutions by larger amino acids, which affect the formation of collagen triple helix (Dalgleish R 1997, Gajko-Galicka et al. 2002). |
| (summation) | [Reaction:9018150] BGN binds COL1A1-defective collagen types I, VI, (IX) [Homo sapiens] |
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No pathways have been reviewed or authored by Biglycan is a member of the small leucine-rich repeat proteo... (9018147)
