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.
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.