ZNF513 is a zinc finger transcription factor that functions as a critical regulator of retinal development and photoreceptor maintenance 1. The protein localizes to the nucleus and binds to promoters of photoreceptor-specific genes including Pax6, Sp4, Arr3, Irbp, and opsin genes, controlling their expression during retinal development 1. ZNF513 also functions as a positive transcriptional regulator of KIF3C and SOS1 genes 2. Loss-of-function mutations impair this transcriptional activity; zebrafish knockdown of znf513 reduces eye size, retinal thickness, and photoreceptor-specific gene expression, resulting in photoreceptor loss 1. Pathogenic ZNF513 variants are associated with autosomal-recessive retinitis pigmentosa (RP58), characterized by progressive photoreceptor degeneration and vision loss 1. Additionally, compound heterozygous ZNF513 mutations cooperate with KIF3C mutations to cause hereditary gingival fibromatosis through dysregulation of the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK pathways 2. ZNF513 has also been identified as a comorbid gene in metabolic dysfunction-associated steatotic liver disease through transcriptome-wide association studies 3. These findings establish ZNF513 as a multifunctional transcriptional regulator essential for photoreceptor differentiation and tissue homeostasis.