KRT5 : keratin 5

Description

The KRT5 (keratin 5) is a protein-coding gene located on chromosome 12.

The KRT5 gene provides instructions for making keratin 5, a tough, fibrous protein that forms the structural framework of skin cells. In the epidermis, keratin 5 pairs with keratin 14, creating keratin intermediate filaments that strengthen and protect the skin. These filaments help attach skin cells together and anchor the epidermis to deeper layers, protecting the skin from damage. Keratin 5 also interacts with pigment-producing cells (melanocytes) to transport melanosomes, which carry melanin pigment. This process contributes to normal skin coloration.

KRT5 plays a crucial role in forming keratin intermediate filaments within the basal layer of the epidermis, contributing to the strength and resilience of the skin's barrier against physical stress. Additionally, KRT5 regulates the recruitment of Langerhans cells to the epidermis by potentially influencing the levels of macrophage chemotactic and inflammatory cytokines, as well as the localization of CTNND1 within keratinocytes.

KRT5 is also known as CK5, DDD, DDD1, EBS1, EBS2, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F, K5, KRT5A.

Associated Diseases

• Localized epidermolysis bullosa simplex
• Epidermolysis bullosa simplex 2E, with migratory circinate erythema
• Dowling-Degos disease
• Epidermolysis bullosa simplex, Dowling-Meara type
• Epidermolysis bullosa simplex with circinate migratory erythema
• Epidermolysis bullosa simplex with mottled pigmentation
• Epidermolysis bullosa simplex 2C, localized
• Epidermolysis bullosa simplex 2B, generalized intermediate
• Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
• Epidermolysis bullosa simplex 2A, generalized severe
• Autosomal dominant generalized epidermolysis bullosa simplex, severe form
• Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
• Epidermolysis bullosa simplex