Ift52, a core component of the IFT-B complex, is crucial for ciliary transport. It facilitates the movement of cargoes along the ciliary axoneme and is involved in ciliopathies [6]. Cilia are microtubule-based organelles important for many physiological processes, and Ift52-mediated ciliary transport is essential for their proper function.

In Drosophila, deletion of Ift52 leads to severe defects in sensory cilia formation and related sensory behaviors, while it is dispensable for sperm flagella formation [1]. In human studies, mutations in Ift52 are associated with various ciliopathies. For example, in a patient with syndromic ciliopathy presenting mild short-rib thoracic dysplasia (SRTD) and Liber congenital amaurosis (LCA), a homozygous missense variation in Ift52 was identified, which could disrupt cilia elongation in vitro [2]. Different missense mutations in Ift52 are also related to SRTD or congenital anomaly of kidney and urinary tract (CAKUT), with the SRTD-associated mutation impairing IFT-B complex assembly and ciliary localization [3]. In C3H10T1/2 mouse mesenchymal stem cells, depletion of Ift52 using lentiviral shRNA interference disrupted the IFT-B anterograde trafficking machinery, impaired primary ciliogenesis, and blocked osteogenic differentiation [4]. Ift52 mutant cells in a case of short-rib polydactyly syndrome (SRPS) showed reduced synthesis of key anterograde complex members and disrupted ciliogenesis [5].

In conclusion, Ift52 is essential for sensory cilia formation, neuronal sensory function, and ciliary transport. Studies using gene-knockout models in Drosophila and cell-based models in humans have revealed its role in ciliopathies such as SRTD, LCA, and SRPS, as well as its importance in osteogenic differentiation. Understanding Ift52's functions provides insights into the mechanisms of cilia-related biological processes and associated diseases.