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Keratin 12

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KRT12
Identifiers
AliasesKRT12, K12, keratin 12, MECD1
External IDsOMIM: 601687; MGI: 96687; HomoloGene: 188; GeneCards: KRT12; OMA:KRT12 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000223

NM_010661

RefSeq (protein)

NP_000214

NP_034791

Location (UCSC)Chr 17: 40.86 – 40.87 MbChr 11: 99.31 – 99.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.[5][6] It's a type I keratin.

Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187242Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020912Ensembl, 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. ^ a b Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH (June 1997). "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy". Nat. Genet. 16 (2): 184–7. doi:10.1038/ng0697-184. PMID 9171831. S2CID 24438634.
  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.

Further reading

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