Ttc8 - tetratricopeptide repeat domain 8

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in cilium assembly. Acts upstream of or within several processes, including morphogenesis of a polarized epithelium; negative regulation of GTPase activity; and nervous system development. Located in membrane and photoreceptor connecting cilium. Part of BBSome. Is expressed in sensory organ; spermatid; and telencephalon. Used to study Bardet-Biedl syndrome 8. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 8; and retinitis pigmentosa 51. Orthologous to human TTC8 (tetratricopeptide repeat domain 8). [provided by Alliance of Genome Resources, Apr 2022]