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Genetics Home Reference: your guide to understanding genetic conditions
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KRT81

Reviewed March 2012

What is the official name of the KRT81 gene?

The official name of this gene is “keratin 81.”

KRT81 is the gene's official symbol. The KRT81 gene is also known by other names, listed below.

What is the normal function of the KRT81 gene?

The KRT81 gene provides instructions for making the type II hair keratin K81 protein (K81). 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 K81 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 KRT81 gene share characteristics with other genes?

The KRT81 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 KRT81 gene related to health conditions?

monilethrix - caused by mutations in the KRT81 gene

At least two mutations in the KRT81 gene have been identified in people with 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 K81 protein. The amino acid changes usually occur in a region of the K81 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 KRT81 gene are related to the abnormality in the cortex or the beaded appearance of the hair.

Where is the KRT81 gene located?

Cytogenetic Location: 12q13

Molecular Location on chromosome 12: base pairs 52,285,912 to 52,291,514

The KRT81 gene is located on the long (q) arm of chromosome 12 at position 13.

The KRT81 gene is located on the long (q) arm of chromosome 12 at position 13.

More precisely, the KRT81 gene is located from base pair 52,285,912 to base pair 52,291,514 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 KRT81?

You and your healthcare professional may find the following resources about KRT81 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 KRT81 gene or gene products?

  • ghHb1
  • hair keratin K2.9
  • hard keratin, type II, 1
  • HB1
  • Hb-1
  • hHAKB2-1
  • hHb1
  • keratin-81
  • keratin, hair, basic, 1
  • KRT81_HUMAN
  • KRTHB1
  • type II hair keratin Hb1

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 KRT81?

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

  • OMIM: KERATIN 81 (http://omim.org/entry/602153)
  • Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol. 1999 Oct;113(4):607-12. (http://www.ncbi.nlm.nih.gov/pubmed/10504448?dopt=Abstract)
  • 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/3887)
  • 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)

 

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: November 24, 2014