KRT83

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
KRT83
Identifiers
AliasesKRT83, HB3, Hb-3, KRTHB3, keratin 83, MNLIX, EKVP5
External IDsOMIM: 602765 MGI: 3690448 HomoloGene: 68248 GeneCards: KRT83
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT83
Genomic location for KRT83
Band12q13.13Start52,314,301 bp[1]
End52,321,398 bp[1]
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 MbChr 15: 101.49 – 101.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin 83, also known as KRT83, is a protein which humans is encoded by the KRT83 gene.[5][6]

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.[7]

Clinical significance[edit]

Mutations in the KRT83 gene have been associated with monilethrix.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170523 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067613 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: KRT83 keratin 83".
  8. ^ 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.