KRT86

From Wikipedia, the free encyclopedia
Jump to: navigation, search
KRT86
Identifiers
Aliases KRT86, HB6, Hb1, KRTHB1, KRTHB6, MNX, hHb6, K86, keratin 86
External IDs MGI: 109362 HomoloGene: 1717 GeneCards: KRT86
Gene location (Human)
Chromosome 12 (human)
Chr. Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT86
Genomic location for KRT86
Band No data available Start 52,249,300 bp[1]
End 52,309,163 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002284
NM_001320198

NM_010667

RefSeq (protein)

NP_001307127

NP_034797

Location (UCSC) Chr 12: 52.25 – 52.31 Mb Chr 12: 101.47 – 101.48 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.[5][6][7]

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, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170442 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067614 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J (Aug 1997). "Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix". Nat Genet. 16 (4): 372–4. PMID 9241275. doi:10.1038/ng0897-372. 
  6. ^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol. 174 (2): 169–74. PMC 2064177Freely accessible. PMID 16831889. doi:10.1083/jcb.200603161. 
  7. ^ a b "Entrez Gene: KRT86 keratin 86". 

Further reading[edit]