I |
80 |
Dermis |
Maintains skin structure and tissue integrity |
Mutations resulting in osteogenesis imperfecta and Ehlers Danlos syndrome |
III |
15 |
Dermis |
Maintains skin structure and integrity |
Deficient mice display very severe spontaneous skin wounds and not uniformed the diameters of the collagen fibrils |
|
|
|
Provide tensility, flexibility and softness |
|
|
|
|
Determines the collagen fibril diameter |
|
IV |
2–4 |
Basement membrane vessels |
Separates dermis-epidermis |
Mutations resulting in Alport syndrome |
|
|
|
Supports cells |
|
V |
<1 |
Basement membrane dermis |
Bridges and stabilizes the epidermal–dermal interface |
Defective product in most cases of Ehlers Danlos syndrome |
|
|
|
Contributes to epidermis differentiation |
Abnormal deposition in dermis correlates with skin thickening |
VI |
<1 |
Dermis papillary |
Provides resistance to tensile stress |
Defective linked to atopic dermatitis and trichothiodystrophy with dry, scaly ichthyotic skin |
|
|
|
May function in the maintaining the barrier function of the skin |
|
VII |
<1 |
Basement membrane |
Stabilizes the association of the lower part of the basement membrane to the underlying dermis |
Mutation resulting in recessive dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita |
XIV |
<1 |
Dermis hair follicles |
May act in modulating cell-matrix adhesion |
Mature skin with mutation exhibits reduced mechanical properties |
XVI |
<1 |
Papillary dermis |
Anchores microfibrils to basement membranes |
Mutation resulting in epidermolysis bullosa |
XVII (BP180) |
<1 |
Basal keratinocytes |
Maintains adherence of the epidermis to the basement membrane |
Mutation resulting in epidermolysis bullosa, Pemphigoid immunobullous diseases |