Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Ehlers-Danlos syndrome Mutations in the COL5A1 gene cause a form of Ehlers-Danlos syndrome called the classical type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. This form of the disorder is characterized by skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. The mutations affect one copy of the gene in each cell, reducing the amount of pro-α1(V) chains that cells produce. As a result, fibrils containing type V and type I collagens in the skin and other tissues are disorganized and larger than usual. Researchers believe that the abnormal collagen weakens connective tissues throughout the body, which causes the signs and symptoms of classical Ehlers-Danlos syndrome.

     The COL5A1 gene provides instructions for making a component of type V collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles. A component of type V collagen called the pro-α1(V) chain is produced from the COL5A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Two combinations of chains can produce type V collagen: three pro-α1(V) chains or two pro-α1(V) chains and one pro-α2(V) chain (which is produced from the COL5A2 gene). The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils with another form of collagen, type I. Type V collagen regulates the width (diameter) of those fibrils. Studies suggest that type V collagen also controls the assembly of other types of collagen into fibrils in several tissues.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• RORalpha2
• c-Rel
• Brachyury
• Nkx5-1
• Gfi-1

Molecular Function:

• Extracellular Matrix Structural Constituent
• Heparin Binding
• Integrin Binding
• Metal Ion Binding
• Platelet-Derived Growth Factor Binding
• Proteoglycan Binding

Biological Processes:

• Blood Vessel Development
• Cell Adhesion
• Collagen Biosynthetic Process
• Collagen Catabolic Process
• Collagen Fibril Organization
• Extracellular Fibril Organization
• Extracellular Matrix Organization
• Eye Morphogenesis
• Heart Morphogenesis
• Integrin Biosynthetic Process
• Negative Regulation Of Endodermal Cell Differentiation
• Regulation Of Cellular Component Organization
• Skin Development
• Tendon Development
• Wound Healing, Spreading Of Epidermal Cells

*synonyms