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Keratin 16

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(Redirected from Keratin 16 mosaicism)
KRT16
Identifiers
AliasesKRT16, CK16, FNEPPK, K16, K1CP, KRT16A, NEPPK, PC1, keratin 16
External IDsOMIM: 148067; MGI: 96690; HomoloGene: 21145; GeneCards: KRT16; OMA:KRT16 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005557

NM_008470
NM_001313958

RefSeq (protein)

NP_005548

NP_001300887
NP_032496

Location (UCSC)Chr 17: 41.61 – 41.62 MbChr 11: 100.14 – 100.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.[5][6][7]

Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial tissues, including nail bed, esophagus, tongue, and hair follicles. Mutations in the gene encoding this protein are associated with the genetic skin disorders including pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186832Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053797Ensembl, 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. ^ Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E (February 1988). "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722–36. doi:10.1128/mcb.8.2.722. PMC 363198. PMID 2451124.
  6. ^ Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33–8. doi:10.1159/000133109. PMID 1713141.
  7. ^ 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.
  8. ^ Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S (October 1995). "Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families". Hum. Mol. Genet. 4 (10): 1875–81. doi:10.1093/hmg/4.10.1875. PMID 8595410.
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Further reading

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