KRT6B gene

keratin 6B

The KRT6B gene provides instructions for making a protein called keratin 6b or K6b. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 6b is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands, which produce an oily substance called sebum.

Keratin 6b partners with a similar protein, keratin 17, to form molecules called keratin intermediate filaments. These filaments assemble into dense networks that provide strength and resilience to the skin, nails, and other tissues. Networks of keratin intermediate filaments protect these tissues from being damaged by friction and other everyday physical stresses. Keratin 6b is also among several keratins involved in wound healing.

At least four mutations in the KRT6B gene have been identified in people with pachyonychia congenita, a rare condition that primarily affects the nails and skin. In most cases, this condition becomes apparent within the first few months of life. These mutations either change single protein building blocks (amino acids) in keratin 6b or delete a small number of amino acids from the protein.

The KRT6B gene mutations responsible for pachyonychia congenita change the structure of keratin 6b, preventing it from interacting effectively with keratin 17 and interfering with the assembly of the keratin intermediate filament network. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as walking can cause skin cells to break down, resulting in the formation of painful blisters and calluses. In the sebaceous glands, abnormal keratin filaments lead to the development of sebum-filled cysts called steatocystomas. Defective keratin 6b also disrupts the growth and function of other tissues, such as the hair follicles and nails, which explains why the signs and symptoms of pachyonychia congenita can also affect these other parts of the body.

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13

Molecular Location: base pairs 52,446,651 to 52,452,146 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13
  • CK 6B
  • CK6B
  • cytokeratin-6B
  • cytokeratin 6B
  • K6B
  • K6b keratin
  • keratin 6B, type II
  • keratin, epidermal, type II, K6B
  • keratin, type II cytoskeletal 6B
  • KRTL1