FAM161 centrosomal protein A (FAM161A) (FAM161A)

FAM161 centrosomal protein A (FAM161A) is a microtubule-associated protein localized to the connecting cilium of photoreceptor cells and the basal body of cilia (UniProt Q3B820). It plays a vital role in maintaining the structural integrity of the microtubule tracks within the connecting cilium, which facilitates the essential transport of proteins between the inner and outer segments of the eye (PubMed: 24939573). Mutations in the FAM161A gene are the underlying cause of Retinitis Pigmentosa 28 (RP28), an autosomal recessive form of retinal degeneration (NCBI Gene: 84140). As a loss-of-function disorder, it is a prime candidate for gene replacement therapy. Experimental treatments involve using adeno-associated virus (AAV) vectors to deliver functional FAM161A cDNA to the retina to halt or slow the progression of vision loss (PubMed: 33106580). While no drugs are currently FDA-approved, several gene therapy candidates are in preclinical and early clinical development stages.

Other names

FAM161ARP28Protein FAM161AFAM161 centrosomal protein A

Gene augmentation therapy via viral vector delivery to restore functional protein expression in photoreceptor cells.