KRT83

Last updated
KRT83
Identifiers
Aliases KRT83 , HB3, Hb-3, KRTHB3, keratin 83, MNLIX, EKVP5
External IDs OMIM: 602765 MGI: 3690448 HomoloGene: 68248 GeneCards: KRT83
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002282

NM_001201323

RefSeq (protein)

NP_002273

NP_001188252

Location (UCSC) Chr 12: 52.31 – 52.32 Mb n/a
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Keratin 83, also known as KRT83, is a protein which humans is encoded by the KRT83 gene. [4] [5]

Contents

Function

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1 (KRT81), KRTHB3 (KRT83, this protein), and KRTHB6 (KRT86), is highly related. The other less-related subfamily includes KRTHB2 (KRT82), KRTHB4 (KRT84), and KRTHB5 (KRT85). All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [6]

Clinical significance

Mutations in the KRT83 gene have been associated with monilethrix. [7]

Related Research Articles

Keratin 6A

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 sequence of this keratin together with that of the first type I keratin led to the discovery of the four helical domains in the central rod of keratins. In humans Keratin 6A is encoded by the KRT6A gene.

Keratin 4

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 3

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 in the corneal epithelium together with keratin 12.

Keratin 16

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.

Keratin 15

Keratin 15 is a protein that in humans is encoded by the KRT15 gene.

Monilethrix Medical condition

Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).

KRT81

Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.

KRT31

Keratin, type I cuticular Ha1 is a protein that in humans is encoded by the KRT31 gene.

KRT86

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.

KRT78

Keratin, type II cytoskeletal 78 is a protein that in humans is encoded by the KRT78 gene.

KRT33B

Keratin, type I cuticular Ha3-II is a protein that in humans is encoded by the KRT33B gene.

KRT23

Keratin, type I cytoskeletal 23 is a protein that in humans is encoded by the KRT23 gene.

KRT32

Keratin, type I cuticular Ha2 is a protein that in humans is encoded by the KRT32 gene.

KRT33A

Keratin, type I cuticular Ha3-I is a protein that in humans is encoded by the KRT33A gene.

Keratin 34

Keratin, type I cuticular Ha4 is a protein that in humans is encoded by the KRT34 gene.

KRT85

Keratin, type II cuticular Hb5 is a protein that in humans is encoded by the KRT85 gene.

KRT36

Keratin, type I cuticular Ha6 is a protein that in humans is encoded by the KRT36 gene.

KRT80

Keratin 80, also known as KRT80, is a protein which humans is encoded by the KRT80 gene.

KRT79

Keratin 79 also known as KRT79 is a protein which humans is encoded by the KRT79 gene.

KRT37

Keratin 37 is a protein that in humans is encoded by the KRT37 gene. KRT37 is a member of the keratin gene family.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000170523 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Rogers MA, Langbein L, Praetzel S, Moll I, Krieg T, Winter H, Schweizer J (February 1997). "Sequences and differential expression of three novel human type-II hair keratins". Differentiation. 61 (3): 187–94. doi:10.1046/j.1432-0436.1997.6130187.x. PMID   9084137. Archived from the original on 2013-01-05.
  5. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC   2064177 . PMID   16831889.
  6. "Entrez Gene: KRT83 keratin 83".
  7. van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M (March 2005). "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix". J. Med. Genet. 42 (3): e19. doi:10.1136/jmg.2004.021030. PMC   1736019 . PMID   15744029.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.