Species Human Entrez 84627 | Human Mouse Ensembl ENSG00000225614 | |
Aliases ZNF469, BCS, BCS1, zinc finger protein 469 External IDs MGI: 2684868 HomoloGene: 18937 GeneCards: ZNF469 | ||
Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene.
Contents
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.
Clinical significance
Mutations in ZNF469 are associated to keratoconus .
References
ZNF469 Wikipedia(Text) CC BY-SA