This is an old revision of this page, as edited by Ffffrr(talk | contribs) at 16:38, 28 October 2022(Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens"). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.
Revision as of 16:38, 28 October 2022 by Ffffrr(talk | contribs)(Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens")
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]
Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A (2012). "Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness". Hum. Genet. 131 (11): 1783–93. doi:10.1007/s00439-012-1201-3. PMID22814818. S2CID17779513.