OFD1

Oral-Facial-Digital Syndrome 1 Protein (OFD1) is a centrosomal and ciliary protein critical for organelle biogenesis, with no widely established alternative aliases. Localized to centrosomes, basal bodies, and cilia, it regulates ciliogenesis by mediating protein trafficking to ciliary membranes and maintaining centrosome integrity. OFD1 also participates in cell cycle progression, particularly in centrosome duplication and spindle assembly, ensuring proper cell division through interactions with microtubule-associated proteins.
OFD1 function is tied to pathways governing ciliary signaling, such as the Hedgehog (Hh) pathway, where it modulates downstream signaling via ciliary protein localization. Mutations in OFD1 cause Oral-Facial-Digital Syndrome Type 1 (OFD1), a rare X-linked disorder characterized by facial, oral, and digital anomalies, often with renal or central nervous system involvement. Currently, drug development targeting OFD1 remains limited, focusing on symptomatic management of OFD1 syndrome rather than direct protein modulators, given the disorder’s genetic basis and early research stage.