Chapter, 2024

Chapter 12 Type XII collagen

Biochemistry of Collagens, Laminins and Elastin 9780443156175, Pages 113-122

Editors:

Publisher: Elsevier

DOI: 10.1016/b978-0-443-15617-5.00038-x

Contributors

Sinkeviciute, Dovile 0000-0003-4275-388X [1] Breisnes, Helene Wallem 0009-0004-8400-2237 [1] Bay-Jensen, Anne-Christine Bay 0000-0001-7952-9297 [1] Karsdal, Morten Asser 0000-0002-4764-5100 [1] Manon-Jensen, Tina [1] Mortensen, Joachim Høg 0000-0003-0326-7264 [1]

Affiliations

  1. [1] Nordic Bioscience (Denmark)
    2. [NORA names: Nordic Bioscience; Private Research; Denmark; Europe, EU; Nordic; OECD]

Abstract

Type XII collagen is a fibril-associated collagen with interrupted triple helices (FACIT). It is located in the interstitial matrix and is a component of human skeletal muscle. Type XII collagen contains special domains, such as the NC3 domain, which carries glycosaminoglycan chains and interacts with matrix proteins such as decorin, COMP, fibromodulin, and tenascin. Col12a −/− mice display skeletal abnormalities, such as shorter and smaller long bones with reduced mechanical strength and altered vertebrae structure, and disorganized and less polarized osteoblasts with disrupted cell–cell interactions. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Currently, there are no biomarkers of type XII collagen.

Keywords

COL12A1, CoMP, FACIT, NC3, NC3 domain, XII collagen, abnormalities, biomarkers, bone, cell-cell interactions, chain, collagen, components, decorin, disrupting cell-cell interactions, domain, dominant mutations, fibril-associated collagens, fibromodulin, glycosaminoglycan chains, glycosaminoglycans, helix, human skeletal muscle, humans, interaction, interrupted triple helices, interstitial matrix, long bones, matrix, matrix proteins, mechanical strength, mice, muscle, mutations, osteoblasts, overlap syndrome, protein, reduced mechanical strength, skeletal abnormalities, skeletal muscle, strength, structure, syndrome, tenascin, triple helix, type, type XII collagen, vertebrae, vertebrae structure

Data Provider: Digital Science

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