Collagen - Types and Associated Disorders

Types and Associated Disorders

Collagen occurs in many places throughout the body. Over 90% of the collagen in the body, however, is of type one.

So far, 28 types of collagen have been identified and described. The five most common types are:

  • Collagen I: skin, tendon, vascular ligature, organs, bone (main component of the organic part of bone)
  • Collagen II: cartilage (main component of cartilage)
  • Collagen III: reticulate (main component of reticular fibers), commonly found alongside type I.
  • Collagen IV: forms bases of cell basement membrane
  • Collagen V: cell surfaces, hair and placenta

Collagen-related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis, assembly, postranslational modification, secretion, or other processes involved in normal collagen production.

Genetic Defects of Collagen Genes
Type Notes Gene(s) Disorders
I  This is the most abundant collagen of the human body. It is present in scar tissue, the end product when tissue heals by repair. It is found in tendons, skin, artery walls, cornea, the endomysium of myofibrils, fibrocartilage, and the organic part of bones and teeth. COL1A1, COL1A2 Osteogenesis imperfecta, Ehlers–Danlos syndrome, Infantile cortical hyperostosis aka Caffey's disease
II Hyaline cartilage, makes up 50% of all cartilage protein. Vitreous humour of the eye. COL2A1 Collagenopathy, types II and XI
III This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Reticular fiber. Also found in artery walls, skin, intestines and the uterus COL3A1 Ehlers–Danlos syndrome, Dupuytren's contracture
IV Basal lamina; eye lens. Also serves as part of the filtration system in capillaries and the glomeruli of nephron in the kidney. COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6 Alport syndrome, Goodpasture's syndrome
V Most interstitial tissue, assoc. with type I, associated with placenta COL5A1, COL5A2, COL5A3 Ehlers–Danlos syndrome (Classical)
VI Most interstitial tissue, assoc. with type I COL6A1, COL6A2, COL6A3, COL6A5 Ulrich myopathy, Bethlem myopathy, Atopic dermatitis
VII Forms anchoring fibrils in dermoepidermal junctions COL7A1 Epidermolysis bullosa dystrophica
VIII Some endothelial cells COL8A1, COL8A2 Posterior polymorphous corneal dystrophy 2
IX FACIT collagen, cartilage, assoc. with type II and XI fibrils COL9A1, COL9A2, COL9A3 EDM2 and EDM3
X Hypertrophic and mineralizing cartilage COL10A1 Schmid metaphyseal dysplasia
XI Cartilage COL11A1, COL11A2 Collagenopathy, types II and XI
XII FACIT collagen, interacts with type I containing fibrils, decorin and glycosaminoglycans COL12A1
XIII Transmembrane collagen, interacts with integrin a1b1, fibronectin and components of basement membranes like nidogen and perlecan. COL13A1
XIV FACIT collagen COL14A1
XV COL15A1
XVI COL16A1
XVII Transmembrane collagen, also known as BP180, a 180 kDa protein COL17A1 Bullous pemphigoid and certain forms of junctional epidermolysis bullosa
XVIII Source of endostatin COL18A1
XIX FACIT collagen COL19A1
XX COL20A1
XXI FACIT collagen COL21A1
XXII COL22A1
XXIII MACIT collagen COL23A1
XXIV COL24A1
XXV COL25A1
XXVI EMID2
XXVII COL27A1
XXVIII COL28A1

In addition to the above mentioned disorders, excessive deposition of collagen occurs in scleroderma.

Read more about this topic:  Collagen

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