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Genetics Home Reference: your guide to understanding genetic conditions
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KRT83

Reviewed March 2012

What is the official name of the KRT83 gene?

The official name of this gene is “keratin 83.”

KRT83 is the gene's official symbol. The KRT83 gene is also known by other names, listed below.

What is the normal function of the KRT83 gene?

The KRT83 gene provides instructions for making the type II hair keratin K83 protein (K83). This protein belongs to a group of proteins known as keratins, which are tough, fibrous proteins that form the structural framework of cells that make up the hair, skin, and nails. Each keratin protein partners with another keratin protein to form molecules called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the tissues and protect them from being damaged by everyday physical stresses. The K83 protein is found in cells that make up the inner compartment of the hair shaft known as the cortex, and this protein helps give hair its strength and elasticity.

Does the KRT83 gene share characteristics with other genes?

The KRT83 gene belongs to a family of genes called KRT (keratins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the KRT83 gene related to health conditions?

monilethrix - caused by mutations in the KRT83 gene

Mutations in the KRT83 gene can cause monilethrix, a hair condition characterized by strands of hair with a beaded appearance and short, brittle hair that breaks easily. Mutations associated with this condition change a single protein building block (amino acid) in the K83 protein. The amino acid changes usually occur in a region of the K83 protein thought to be important in intermediate filament formation. In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the KRT83 gene are related to the abnormality in the cortex or the beaded appearance of the hair.

Where is the KRT83 gene located?

Cytogenetic Location: 12q13

Molecular Location on chromosome 12: base pairs 52,314,300 to 52,321,397

The KRT83 gene is located on the long (q) arm of chromosome 12 at position 13.

The KRT83 gene is located on the long (q) arm of chromosome 12 at position 13.

More precisely, the KRT83 gene is located from base pair 52,314,300 to base pair 52,321,397 on chromosome 12.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about KRT83?

You and your healthcare professional may find the following resources about KRT83 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the KRT83 gene or gene products?

  • hair keratin K2.10
  • hard keratin, type II, 3
  • HB3
  • Hb-3
  • hHb3
  • K83
  • keratin-83
  • keratin, hair, basic, 3
  • KRT83_HUMAN
  • KRTHB3
  • type II hair keratin Hb3
  • type-II keratin Kb23

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding KRT83?

amino acid ; epithelial ; gene ; Hb ; intermediate filaments ; keratin ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Langbein L, Rogers MA, Winter H, Praetzel S, Schweizer J. The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. J Biol Chem. 2001 Sep 14;276(37):35123-32. Epub 2001 Jul 9. (http://www.ncbi.nlm.nih.gov/pubmed/11445569?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3889)
  • OMIM: KERATIN 83 (http://omim.org/entry/602765)
  • Rogers MA, Langbein L, Praetzel S, Moll I, Krieg T, Winter H, Schweizer J. Sequences and differential expression of three novel human type-II hair keratins. Differentiation. 1997 Feb;61(3):187-94. (http://www.ncbi.nlm.nih.gov/pubmed/9084137?dopt=Abstract)
  • Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW. New consensus nomenclature for mammalian keratins. J Cell Biol. 2006 Jul 17;174(2):169-74. Epub 2006 Jul 10. (http://www.ncbi.nlm.nih.gov/pubmed/16831889?dopt=Abstract)
  • van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet. 2005 Mar;42(3):e19. (http://www.ncbi.nlm.nih.gov/pubmed/15744029?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2012
Published: July 21, 2014