Tetratricopeptide repeat domain 8 (TTC8)

Tetratricopeptide repeat domain 8 (TTC8), also known as BBS8, encodes a protein that is a component of the BBSome complex, essential for the formation and maintenance of primary cilia in eukaryotic cells[1][3][6]. TTC8 localizes to ciliary structures, including the basal body and the connecting cilium of photoreceptors, and is involved in sorting specific membrane proteins to primary cilia[1][6]. Mutations in TTC8 are directly linked to Bardet-Biedl syndrome, a ciliopathy characterized by a range of symptoms, most notably retinal dystrophy and, in some cases, have been implicated in non-syndromic retinitis pigmentosa[1][4][5]. While TTC8 is not currently established as a direct therapeutic target (i.e., not a receptor, enzyme, or transporter with known drug interactions), its role in ciliary biology marks it as significant in the pathology of ciliopathies[1].

Other names

BBS8RP51Tetratricopeptide repeat protein 8Bardet-Biedl syndrome 8 proteinBardet-Biedl syndrome type 8TPR repeat protein 8