Zinc finger protein 513 (ZNF513)

Zinc finger protein 513 is a nuclear transcription factor with critical roles in the regulation of photoreceptor-specific genes during retinal development and maintenance. It binds to promoters of genes necessary for photoreceptor differentiation and survival, such as Pax6, Sp4, Arr3, Irbp, and photoreceptor opsins. Mutations in ZNF513, especially c.1015T>C (p.C339R), cause a form of autosomal-recessive retinitis pigmentosa manifesting as progressive photoreceptor degeneration, decreased retinal thickness, and loss of vision. ZNF513 is mainly expressed in retinal tissue, particularly the outer and inner nuclear layers and photoreceptors, and is essential for gene regulatory networks governing visual function. No direct therapeutics or interacting drugs are in clinical use or investigation, and current evidence focuses on understanding ZNF513’s pathogenic mutations and their mechanistic links to inherited retinal diseases.

Other names

ZNF513FLJ32203RP58Zfp513HMFT0656zinc finger protein 513

Not established or reported for drugs, as ZNF513 is not targeted by any approved therapies