• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. KRT14

KRT14 (Keratin 14)

Loading...

Summary of KRT14

The gene codes for a protein, keratin 14. Mutations are linked to epidermolysis bullosa simplex [R].

0 users want this gene increased, 0 users want it decreased

The Function of KRT14

The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

Protein names

Recommended name:

Keratin, type I cytoskeletal 14

Short name:

K14

Alternative name(s):

Cytokeratin-14
CK-14
Keratin-14

KRT14 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS60831116 (KRT14) ??

Top Gene-Substance Interactions

KRT14 Interacts with These Diseases

Disease Score

Substances That Increase KRT14

Substances Interaction Organism Category

Substances That Decrease KRT14

Substances Interaction Organism Category

Advanced Summary

     epidermolysis bullosa simplex More than 60 mutations in the KRT14 gene have been identified in people with epidermolysis bullosa simplex, a condition that causes the skin to be very fragile and to blister easily. Most of these genetic changes alter single protein building blocks (amino acids) used to make keratin 14. The most severe form of epidermolysis bullosa simplex, the Dowling-Meara type, usually results from changes in regions of keratin 14 that are essential for the normal assembly of keratin intermediate filaments. Milder forms of the disorder, including the localized type (formerly called the Weber-Cockayne type) and a form known as the other generalized type (formerly called the Koebner type), are often caused by changes affecting less critical regions of the protein. KRT14 gene mutations change the structure and function of keratin 14, preventing it from working effectively with keratin 5 and interfering with the assembly of the keratin intermediate filament network. Mutations that cause severe forms of the disorder severely disrupt the assembly of keratin intermediate filaments, while mutations that result in milder forms impair keratin filament assembly to a lesser degree. A disruption in this network makes keratinocytes fragile and prone to rupture. Minor trauma to the skin, such as rubbing or scratching, can cause these cells to break down, resulting in the formation of painful, fluid-filled blisters. Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis Several mutations in the KRT14 gene have been found to cause Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR). This disorder is a rare form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, they are now often considered forms of the same disorder. The KRT14 gene mutations that cause NFJS/DPR most likely reduce the amount of functional keratin 14 in keratinocytes. A shortage of this protein makes these cells more likely to self-destruct (undergo apoptosis). The resulting loss of keratinocytes alters the normal development and structure of ectodermal tissues, which likely underlies most of the skin and nail problems characteristic of NFJS/DPR. However, it is unclear how a shortage of keratin 14 is related to the net-like pattern of dark skin coloring (reticulate hyperpigmentation) that is also a hallmark of this condition.

     The KRT14 gene provides instructions for making a protein called keratin 14. 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 14 is specifically produced in cells called keratinocytes in the outer layer of the skin (the epidermis). Keratin 14 partners with a similar protein, keratin 5 (produced from the KRT5 gene), to form molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. The network of keratin intermediate filaments provides strength and resiliency to the skin and protects it from being damaged by friction and other everyday physical stresses. Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of patterned ridges on the skin of the hands and feet. These ridges, called dermatoglyphs, are the basis for each person's unique fingerprints.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • STAT3
  • C/EBPalpha
  • TBP
  • E2F-1
  • TFIID
  • AP-2gamma

Tissue specificity:

Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen.

Gene Pathways:

  • Cell-Cell communication

Molecular Function:

  • Keratin Filament Binding
  • Structural Constituent Of Cytoskeleton

Biological Processes:

  • Aging
  • Epidermis Development
  • Epithelial Cell Differentiation
  • Hair Cycle
  • Hemidesmosome Assembly
  • Intermediate Filament Bundle Assembly
  • Response To Ionizing Radiation
  • Response To Zinc Ion
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

CK14| CK-14| cytokeratin 14| cytokeratin-14| cytokeratin-7| cytokeratin VII| ebs3| ebs4| epidermal keratin VII| k14| Ka14| keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)| keratin 14, type I| keratin complex 1, acidic, gene 14| keratin, type I cytoskeletal 14| Krt-1.14| Krt1-14| NFJ| ouro2| TREES_T100004406| type I alpha-keratin 14| type I keratin Ka14| krt14

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved