Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance

Pachyonychia congenita 1

An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.

Non-selective calcium permeant cation channel (PubMed:12077604, PubMed:12077606, PubMed:26818531, PubMed:37648856, PubMed:38691614). It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius (PubMed:12077604, PubMed:12077606). Activation exhibits an outward rectification (PubMed:12077604). The channel pore can dilate to provide permeability to larger cations (PubMed:37648856). May associate with TRPV1 and may modulate

Cell membraneCytoplasmLysosome

Olmsted syndrome 1

An autosomal dominant, rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes.