Gene Symbol | ZNF469 |
Entrez Gene ID | 84627 |
Full Name | zinc finger protein 469 |
Synonyms | BCS,BCS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Brittle cornea syndrome 1, 229200 (3) |