ZNF469

zinc finger protein 469

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

Cytogenetic Location: 16q24, which is the long (q) arm of chromosome 16 at position 24

Molecular Location: base pairs 88,424,805 to 88,440,757 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q24, which is the long (q) arm of chromosome 16 at position 24
  • BCS
  • BCS1