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Normal Function
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.
Health Conditions Related to Genetic Changes
Monilethrix
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.
More About This Health ConditionErythrokeratodermia variabilis et progressiva
MedlinePlus Genetics provides information about Erythrokeratodermia variabilis et progressiva
More About This Health ConditionOther Names for This Gene
- hair keratin K2.10
- hard keratin, type II, 3
- Hb-3
- HB3
- hHb3
- K83
- keratin 83, type II
- keratin, hair, basic, 3
- keratin-83
- KRT83_HUMAN
- KRTHB3
- type II hair keratin Hb3
- type-II keratin Kb23
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
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. doi: 10.1074/jbc.M103305200. Epub 2001 Jul 9. Citation on PubMed
- 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. doi: 10.1046/j.1432-0436.1997.6130187.x. Citation on PubMed
- 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. doi: 10.1083/jcb.200603161. Epub 2006 Jul 10. Citation on PubMed or Free article on PubMed Central
- 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. doi: 10.1136/jmg.2004.021030. No abstract available. Citation on PubMed or Free article on PubMed Central
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.