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Information about Keratin 6a

keratin 6A
Identifiers
SymbolKRT6A
Entrez3853
HUGO6443
OMIM148041
RefSeqNM_005554
UniProtP02538
Other data
LocusChr. 12 q12-q21

Keratins

Keratins are the intermediate filament proteins that form a dense meshwork of filaments throughout the cytoplasm of epithelial cells. Keratins form heteropolymers consisting of a type I and a type II keratin. Keratins are generally expressed in particular pairs of type I and type II keratin proteins in a tissue-specific and cellular differentiation-specific manner.

The keratin proteins of epithelial tissues are commonly known as "keratins" or are sometimes referred to as "epithelial keratins" or "cytokeratins". The specialized keratins of hair and nail are known as "hard keratins" or "trichocyte keratins". Trichocytes are the specialized epithelial cells from which hair and nail are composed. Trichocyte keratins are similar in their gene and protein structure to keratins except that they are especially rich in the sulfur-containing amino acid cysteine, which facilitates chemical cross-linking of the assembled hard keratins to form a more structurally resilient material.

Both epithelial keratins and hard keratins can be further subdivided into type I (acidic) keratins and type II (neutral-basic) keratins. The genes for the type I keratins are located in a gene cluster on human chromosome 17q, whereas the genes for type II keratins are located in a cluster on human chromosome 12q (the exception being K18, a type I keratin located in the type II gene cluster).

Keratin 6A

Keratin 6A (protein name K6A; gene name KRT6A), is a type II cytokeratin, one of a number of isoforms of keratin 6 encoded by separate genes located within the type II keratin gene cluster on human chromosome 12q. It is found with keratin 16 and/or keratin 17 in the palm and sole epidermis, the epithelial cells of the nail bed, the filiform papillae of the tongue, the epithelial lining of oral mucosa and esophagus, as well as the hair follicles. This keratin 6 isoform is thought to be the most abundant of the K6 isoforms.

The KRT6A gene consists of 9 exons separated by 8 introns and is located in the type II keratin gene cluster on human chromosome 12q. Keratin 6B and keratin 6C are encoded by the neighbouring genes, which are identical in intron-exon organization to KRT6A and are more than 99% identical in their DNA coding sequences.

Genetic disorders

Mutations in the genes expressing this protein have been associated with the PC1 variant of pachyonychia congenita, an inherited disorder of the epithelial tissues in which keratin 6A is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia [1][2][3].

References

1. ^ McLean WHI et al. (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics 9:273-278. Abstract available here[1].
2. ^ Bowden PE et al. (1995) Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nature Genetics 10:363-365. Abstract available here[2].
3. ^ Smith FJD et al. (1998) A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Human Molecular Genetics 7:1143-1148. Abstract available here[3].


 •  • [ e]
Protein: fibrous proteins
CollagenType-I (COL1A1) - Type-II (COL2A1) - Type-III - Type-IV - Type-V - Type XI (COL11A2) - Type-XVII - Type-XVIII
Keratin/Cytokeratintype I (10, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21), type II (1, 2A, 3, 4, 5, 6A, 7, 8, 9), Hair (Type I, Type II), Beta
otherElastin -
The Entrez Global Query Cross-Database Search System is a powerful federated search engine, or web portal that allows users to search many discrete health sciences databases at the National Center for Biotechnology Information (NCBI) website.
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Hugo is a male given name, a latinized form of the name Hugh, a German/Teutonic name meaning "Bright in Mind and Spirit".

Hugo is one of the most popular names in Europe ranking as high as #2 in France, #6 in Spain, and #7 in Belgium in 2006.
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The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. The NCBI is located in Bethesda, Maryland and was founded in 1988.
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Swiss-Prot is a manually curated biological database of protein sequences. Swiss-Prot was created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute.
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locus (plural loci) is a fixed position on a chromosome, such as the position of a gene or a biomarker (genetic marker). A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map.
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Keratins are a family of fibrous structural proteins; tough and insoluble, they form the hard but nonmineralized structures found in reptiles, birds, amphibians and mammals. They are rivaled as biological materials in toughness only by chitin.
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Intermediate filaments (IFs) are cytoskeletal structures formed by members of a family of related proteins. Intermediate filaments have a diameter between that of actin (microfilaments) and microtubules.
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Cytoplasm is a gelatinous, semi-transparent fluid that fills most cells. Eukaryotic cells contain a nucleus that is kept separate from the cytoplasm by a double membrane layer. The cytoplasm has three major elements; the cytosol, organelles and inclusions.
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epithelium is a tissue composed of a layer of cells. Epithelium lines both the outside (skin) and the inside cavities and lumen of bodies. The outermost layer of our skin is composed of dead stratified squamous, keratinized epithelial cells.
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polymer is a substance composed of molecules with large molecular mass composed of repeating structural units, or monomers, connected by covalent chemical bonds. The word is derived from the Greek, πολυ, polu, "many"; and μέρος, meros,
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Tissue may refer to:
  • Aerial tissue, an acrobatic art form and one of the circus arts
  • Tissue (biology), a group of biological cells that perform a similar function
  • Tissue paper, a type of thin, translucent paper used for wrapping and cushioning items

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Cellular differentiation is a concept from developmental biology describing the process by which cells acquire a "type". The morphology of a cell may change dramatically during differentiation, but the genetic material remains the same, with few exceptions.
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Hair is a filamentous outgrowth of protein, found only on mammals. It projects from the epidermis, though it grows from hair follicles deep in the dermis. Although many other organisms, especially insects, show filamentous outgrowths, these are not considered "hair".
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nail is a horn-like structure at the end of a human's or an animal's finger or toe. See also claw.

Parts of the nail

Anatomically fingernails and toenails
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Trichocytes are the specialized epithelial cells from which the highly mechanically resilient tissues hair and nail are formed. They can be identified by the fact that they express "hard", "trichocyte" or "hair" keratin proteins[1].
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6
(strongly acidic oxide)
Electronegativity 2.58 (Pauling scale)
Ionization energies
(more) 1st: 999.6 kJmol−1
2nd: 2252 kJmol−1
3rd: 3357 kJmol−1

Atomic radius 100 pm
Atomic radius (calc.
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amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
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Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division.]] A chromosome is a single large macromolecule of DNA, and constitutes a physically organized form of DNA in a cell.
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Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division.]] A chromosome is a single large macromolecule of DNA, and constitutes a physically organized form of DNA in a cell.
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Keratins are a family of fibrous structural proteins; tough and insoluble, they form the hard but nonmineralized structures found in reptiles, birds, amphibians and mammals. They are rivaled as biological materials in toughness only by chitin.
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A protein isoform is a version of a protein with only small differences to another isoform of the same protein. Different forms of a protein may be produced from different but related genes, or may arise from the same gene by alternative splicing.
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Keratin 6A (protein name K6A; gene name KRT6A), is a type II cytokeratin, one of a number of isoforms of keratin 6 encoded by separate genes located within the type II keratin gene cluster on human chromosome 12q.
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Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division.]] A chromosome is a single large macromolecule of DNA, and constitutes a physically organized form of DNA in a cell.
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Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial tissues, including nail bed, esophagus, tongue, and hair follicles. Mutations in the gene encoding this protein are associated with the genetic skin disorders pachyonychia congenita,
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Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages. Mutations in the gene encoding this protein lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.
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A papilla (plural: papillae) can be:
  • A small projection, such as a nipple-like projection on the skin, at the base of a hair or the root of a feather; the base of a new tooth.
  • A pimple or blister
  • An interdental papilla is the part of gingiva located between teeth.

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The tongue is the large bundle of skeletal muscles on the floor of the mouth that manipulates food for chewing and swallowing (deglutition). It is the primary organ of taste. Much of the surface of the tongue is covered in taste buds.
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epithelium is a tissue composed of a layer of cells. Epithelium lines both the outside (skin) and the inside cavities and lumen of bodies. The outermost layer of our skin is composed of dead stratified squamous, keratinized epithelial cells.
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The mucous membranes (or mucosae; singular: mucosa) are linings of mostly endodermal origin, covered in epithelium, and are involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs.
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The esophagus (also spelled oesophagus/œsophagus, Greek οἰσοφάγος), or gullet
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