Chapter, 2024

Chapter 21 Type XXI collagen

Biochemistry of Collagens, Laminins and Elastin 9780443156175, Pages 187-192

Editors:

Publisher: Elsevier

DOI: 10.1016/b978-0-443-15617-5.00010-x

Contributors

Thorlacius-Ussing, Jeppe 0000-0002-3340-0786 [1] Madsen, Emilie Albrecht 0000-0001-8903-7800 [1] Jessen, Henrik 0000-0003-4985-1132 [1] Kehlet, Stephanie Nina [1] Karsdal, Morten Asser 0000-0002-4764-5100 [1]

Affiliations

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

Abstract

Type XXI collagen belongs to the family of fibril-associated collagens with interrupted triple helices and serves as a molecular bridge between collagen fibrils and other extracellular matrix proteins. Type XXI collagen is expressed in heart, placenta, stomach, jejunum, skeletal muscle, kidney, lung, pancreas, and lymph nodes. Missense mutations in humans are associated with blood pressure, and copy-number variations are associated with cleft lip/palate. There is no mouse ortholog of COL21A1, so null mice have not been reported. The biological function of type XXI collagen requires elucidation; however, data suggest that type XXI collagen may play a role in blood vessel assembly, muscle cell differentiation, and fibroblast activity. Gene expression is deregulated in cancer and muscle disorders, and autoantibodies against type XXI collagen can be found in sera of patients with skin disorders. Biomarkers need to be developed to determine the relevance of type XXI collagen under pathological conditions.

Keywords

COL21A1, activity, assembly, associated with blood pressure, associated with cleft lip/palate, autoantibodies, biological functions, biomarkers, blood, blood pressure, blood vessel assembly, bridge, cancer, cell differentiation, cleft lip/palate, collagen, collagen fibrils, conditions, copy-number, copy-number variations, data, differentiation, disorders, elucidation, expression, extracellular matrix proteins, family, family of fibril-associated collagens, fibril-associated collagens, fibrillation, fibroblast activation, fibroblasts, gene expression, genes, heart, helix, humans, interrupted triple helices, jejunum, kidney, lung, lymph, lymph nodes, matrix proteins, mice, missense, missense mutations, molecular bridge, mouse ortholog, muscle, muscle cell differentiation, muscle disorders, mutations, nodes, null mice, pancreas, pathological conditions, patients, placenta, pressure, protein, relevance, sera, sera of patients, skeletal muscle, skin, skin disorders, stomach, triple helix, type, variation, vessel assembly

Data Provider: Digital Science

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