Table 1.
Intermediate filaments: expression pattern and involvement in human diseases
| Cell type (IF type) | IF | Disease examples |
|---|---|---|
| All nucleated cells (V) |
Lamins Lamin A/C Lamin B |
cardiomyopathy; muscular dystrophy; lipodystrophy; leukodystrophy; progeroid syndrome (for example, Hitchinson-Gilford Progeria Syndrome) |
|
Epithelial (I and II) (Type I: K9-K29, K31-K40) (Type II: K1-K8, K71-K86) |
Keratins hair epidermal simple epithelial |
skin fragility (for example, epidermolysis bullosa simplex) and other skin disorders; hair and nail disorders; corneal dystrophy; predisposition to liver diseases |
| Mesenchymal (III) | Vimentin | cataract |
| Glia (III) | GFAP | Alexander disease |
| Neurons (III and IV) | Neurofilaments (H,M and L) Peripherin α-internexin | Predisposition to amyotrophic lateral sclerosis; Charcot-Marie Tooth disease; predisposition to Parkinson disease |
| Myocytes (III and IV) |
Desmin Synemin Syncoilin |
myopathy; muscular dystrophy |
| Developing and regenerating cells (IV) | Nestin | none reported |
| Lens (VI or orphan) |
Filensin Phakinin |
cataract |