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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Type-III collagen

Introduction

Overview

Overview

Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant), also known as COL3A1, is a human gene.

This gene encodes a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.[1]

Type-III collagen is a fibrous scleroprotein in bone, cartilage, tendon, bone marrow stroma [2] and other connective tissue; yields gelatin on boiling.

Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.

See also

See also

References

References

  1. ↑ “Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)”.
  2. ↑ Semester 4 medical lectures at Uppsala University 2008 by Leif Jansson
Further reading

Further reading

  • Kuivaniemi H, Tromp G, Prockop DJ (1991). “Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say”. J. Clin. Invest. 88 (5): 1441–4. PMID 1939638.
  • Kuivaniemi H, Tromp G, Prockop DJ (1997). “Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels”. Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290.
External links