KRT83

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Keratin 83
Identifiers
Symbols KRT83 ; HB3; Hb-3; KRTHB3
External IDs OMIM602765 MGI3665486 HomoloGene68248 GeneCards: KRT83 Gene
Orthologs
Species Human Mouse
Entrez 3889 100126226
Ensembl ENSG00000170523 ENSMUSG00000067613
UniProt P78385 Q6IMF0
RefSeq (mRNA) NM_002282 NM_001201323
RefSeq (protein) NP_002273 NP_001188252
Location (UCSC) Chr 12:
52.71 – 52.72 Mb
Chr 15:
101.49 – 101.49 Mb
PubMed search [1] [2]

Keratin 83, also known as KRT83, is a protein which humans is encoded by the KRT83 gene.[1][2]

Function[edit]

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.[3]

Clinical significance[edit]

Mutations in the KRT83 gene have been associated with monilethrix.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ "Entrez Gene: KRT83 keratin 83". 
  4. ^ 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[edit]

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