Family with sequence similarity 161 member A (FAM161A)

Family with sequence similarity 161 member A (FAM161A) is a ciliary–centrosomal protein predominantly expressed in retinal photoreceptors, localizing to the connecting cilium, basal body, and centrioles[2][3][6]. FAM161A regulates microtubule stability and acetylation, playing a critical structural role in maintaining photoreceptor architecture and facilitating protein transport between inner and outer segments[2][3][5]. Mutations in FAM161A disrupt ciliary integrity, impair protein trafficking, and are a causative factor for autosomal recessive retinitis pigmentosa type 28 (RP28), a progressive retinal degenerative disease marked by early photoreceptor dysfunction and vision loss[1][4][5]. While not considered a classical drug target (e.g., receptor, enzyme), FAM161A is the subject of gene therapy research aimed at restoring its function in retinal disease[5]. Precise gene regulation is necessary in therapeutic strategies, as both deficiency and overexpression are tied to disease phenotypes and safety considerations[5].

Other names

FAM161 centrosomal protein AFLJ13305RP28retinitis pigmentosa 28 (autosomal recessive)centrosomal protein FAM161Aprotein FAM161A