Keratin 12

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.[5][6]

KRT12
Identifiers
AliasesKRT12, K12, keratin 12, MECD1
External IDsOMIM: 601687 MGI: 96687 HomoloGene: 188 GeneCards: KRT12
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.2Start40,861,303 bp[1]
End40,867,223 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

3859

268482

Ensembl

ENSG00000187242
ENSG00000263243

ENSMUSG00000020912

UniProt

Q99456

Q64291

RefSeq (mRNA)

NM_000223

NM_010661

RefSeq (protein)

NP_000214

NP_034791

Location (UCSC)Chr 17: 40.86 – 40.87 MbChr 11: 99.42 – 99.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ENSG00000263243 GRCh38: Ensembl release 89: ENSG00000187242, ENSG00000263243 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000020912 - 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. 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.
  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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