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gene: ZNF469

id84627
symbolZNF469
organismHomo sapiens
full namezinc finger protein 469
summaryThis 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]
variant-disease

NG_012236.2:g.11027del AND Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

NM_001367624.1(ZNF469):c.1020C>T (p.Gly340=) AND Keratoconus 1

NM_001367624.1(ZNF469):c.10927C>T (p.Leu3643=) AND Keratoconus 1

NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) AND Keratoconus 1

NM_001367624.1(ZNF469):c.6809C>A (p.Ser2270Tyr) AND Keratoconus 1

... 775 more


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