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Keratin 6B information


keratin 6B
Identifiers
SymbolKRT6B
NCBI gene3854
HGNC6444
OMIM148042
RefSeqNM_005555
UniProtP04259
Other data
LocusChr. 12 q12-q21
Search for
StructuresSwiss-model
DomainsInterPro

Keratin 6B is a type II cytokeratin, one of a number of isoforms of keratin 6. It is found with keratin 16 and/or keratin 17 in the hair follicles, the filiform papillae of the tongue and the epithelial lining of oral mucosa and esophagus. This keratin 6 isoform is thought be less abundant than the closely related keratin 6A protein. Mutations in the gene encoding this protein have been associated with pachyonychia congenita, an inherited disorder of the epithelial tissues in which this keratin is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia. Keratin 6B is associated with the PC-K6B subtype of pachyonychia congenita.[1][2][3]

  1. ^ McLean WH, Rugg EL, Lunny DP, et al. (March 1995). "Keratin 16 and keratin 17 mutations cause pachyonychia congenita". Nat. Genet. 9 (3): 273–8. doi:10.1038/ng0395-273. PMID 7539673. S2CID 1873772.
  2. ^ Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ (July 1995). "Mutation of a type II keratin gene (K6a) in pachyonychia congenita". Nat. Genet. 10 (3): 363–5. doi:10.1038/ng0795-363. PMID 7545493. S2CID 26060130.
  3. ^ Smith FJ, Jonkman MF, van Goor H, et al. (July 1998). "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2". Hum. Mol. Genet. 7 (7): 1143–8. doi:10.1093/hmg/7.7.1143. PMID 9618173.

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Keratin 6B

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6B

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Keratin

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Keratin (/ˈkɛrətɪn/) is one of a family of structural fibrous proteins also known as scleroproteins. Alpha-keratin (α-keratin) is a type of keratin found...

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Keratin 6A

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Keratin 6A is one of the 27 different type II keratins expressed in humans. Keratin 6A was the first type II keratin sequence determined. Analysis of the...

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Keratin 14

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Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin...

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Cytokeratin

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Cytokeratins are keratin proteins found in the intracytoplasmic cytoskeleton of epithelial tissue. They are an important component of intermediate filaments...

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Keratin 18

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Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate...

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Keratin 6C

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introns and is located in the type II keratin gene cluster on human chromosome 12q. Keratin 6A and keratin 6B are encoded by the neighbouring genes,...

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Keratin 7

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Keratin, type II cytoskeletal 7 also known as cytokeratin-7 (CK-7) or keratin-7 (K7) or sarcolectin (SCL) is a protein that in humans is encoded by the...

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Keratin 8

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Keratin, type II cytoskeletal 8 also known as cytokeratin-8 (CK-8) or keratin-8 (K8) is a keratin protein that is encoded in humans by the KRT8 gene....

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Keratin 19

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is encoded by the KRT19 gene. Keratin 19 is a type I keratin. Keratin 19 is a member of the keratin family. The keratins are intermediate filament proteins...

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Keratin 3

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Keratin 3 also known as cytokeratin 3 is a protein that in humans is encoded by the KRT3 gene. Keratin 3 is a type II cytokeratin. It is specifically found...

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Intermediate filament

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a human epidermal keratin derived from cloned cDNAs. Analysis of a second keratin sequence revealed that the two types of keratins share only about 30%...

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Keratin 1

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and binds to Keratin 10, a Type I keratin, to form a coiled coil heterotypic keratin chain. Keratin 1 and Keratin 10 are specifically expressed in the...

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Keratin 5

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Keratin 5, also known as KRT5, K5, or CK5, is a protein that is encoded in humans by the KRT5 gene. It dimerizes with keratin 14 and forms the intermediate...

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Keratin 10

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Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. Keratin...

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Keratin 16

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Keratin 16 is a protein that in humans is encoded by the KRT16 gene. Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial...

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Keratin 4

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Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene. Keratin 4...

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Type II keratin

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Type II keratins (or Type II cytokeratins) constitutes the Type II intermediate filaments (IFs) of the intracytoplasmatic cytoskeleton, which is present...

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Keratin 2A

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Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene. Keratin 2A is a type II cytokeratin. It is found...

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Keratin 21

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Keratin 21 is a type I cytokeratin which expresses immunologically specific fusion protein. It is not found in humans, but only in Rattus norvegicus....

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Cytoskeleton

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intermediate filaments are in general present in mesenchymal cells. made of keratin. Keratin is present in general in epithelial cells. neurofilaments of neural...

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Keratin 13

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Keratin 13 (or cytokeratin 13) is a protein that in humans is encoded by the KRT13 gene. Keratin 13 is a type I cytokeratin, it is paired with keratin...

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Keratin 15

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Keratin 15 is a protein that in humans is encoded by the KRT15 gene. It has also been referred to as cytokeratin 15, K1CO and KRTB. Keratin 15 is a type...

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List of cutaneous conditions caused by mutations in keratins

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There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease...

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KRT71

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KRT71 is a keratin gene. Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into...

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Keratin 20

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Keratin 20, often abbreviated CK20, is a protein that in humans is encoded by the KRT20 gene. Keratin 20 is a type I cytokeratin. It is a major cellular...

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Keratin 9

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Keratin 9 is a protein that in humans is encoded by the KRT9 gene. Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated...

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Keratin 17

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Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene. Keratin 17 is a type I cytokeratin. It is found in nail beds...

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