ZNF469

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ZNF469
Identifiers
AliasesZNF469, BCS, BCS1, zinc finger protein 469, Zfp469
External IDsOMIM: 612078 MGI: 2684868 HomoloGene: 18937 GeneCards: ZNF469
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127464
NM_001367624

NM_001362883

RefSeq (protein)

NP_001354553

n/a

Location (UCSC)Chr 16: 88.38 – 88.44 MbChr 8: 122.99 – 123 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene.[5]

Function

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome.[5]

Clinical significance

Mutations in ZNF469 are associated to keratoconus.[6] as well as a type of Ehlers-Danlos syndrome called brittle cornea syndrome.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000225614 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043903 - 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. ^ a b "Entrez Gene: Zinc finger protein 469". Retrieved 2014-08-07.
  6. ^ Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN (2014). "Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus". Invest. Ophthalmol. Vis. Sci. 55 (9): 5629–35. doi:10.1167/iovs.14-14532. PMID 25097247.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.