Tubby-like protein 1 (TULP1)

Tubby-like protein 1 (TULP1) is a member of the tubby protein family, predominantly expressed in the retina inside photoreceptor cells. It is crucial for proper protein trafficking from the inner segment to the outer segments of photoreceptors, and for synapse development and survival of these cells. TULP1 has a highly conserved C-terminal tubby domain that binds lipids and is implicated as a potential DNA-binding transcription factor. It also acts as a ligand for MerTK receptor, facilitating phagocytosis by retinal pigment epithelial cells and macrophages. Mutations in TULP1 cause inherited retinal degenerations, notably retinitis pigmentosa 14 and Leber congenital amaurosis 15. While critical for retinal health and homeostasis, TULP1 is not currently targeted by any approved drugs, though gene therapy approaches for related diseases may seek to restore its function.

Other names

Tubby-related protein 1TULP1TUBL1LCA15RP14Tubby-like protein 1tubby-related protein 1tubby like protein 1

For gene therapy: restores normal gene/protein function to halt degeneration (general mechanism for inherited retinal disease, not TULP1-specific). Ligand for MerTK: facilitates binding and phagocytosis of apoptotic retinal cells via MerTK receptor activation (for homeostasis, not drug-targeted).